CTLA-4基因多态性与反复自然流产（RSA）的关联性研究
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摘要
目的本研究对细胞毒性T淋巴细胞相关性抗原-4 ( cytotoxic T lymphocyte-associated antigen-4, CTLA-4)基因SNP-1722(T/C)、SNP-1661(A/G)、SNP-318(C/T)和SNP+49(A/G)四个多态性位点进行分析,探讨CTLA-4基因四个多态性位点与宁夏汉族反复自然流产(RSA)的相关性,研究CTLA-4基因四个SNP位点构建的单倍型与反复自然流产的关联性。
方法选取2006年1月-2009年7月在宁夏医科大学生殖与遗传实验室进行染色体检查的反复自然流产者242例做为病例组,年龄19-42岁,平均年龄为27.97±4.49岁;选取2008年1月-2009年8月在银川市妇幼保健院住院分娩的正常孕妇228例做为对照组,年龄20-36岁,平均年龄为27.67±3.67岁。用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction- restricted fragment length polymorphism, PCR-RFLP)技术检测病例组与对照组CTLA-4基因四个位点多态性。SPSS11.5软件计算基因型频率,等位基因频率及比值比(OR),比较各组基因型频率和等位基因频率及进行相对危险度的估计,分析CTLA-4基因四个SNPs位点与反复自然流产的相关性,SHEsis软件构建单倍型探讨CTLA-4基因四个SNPs位点与反复自然流产的易感性是否有关联。
结果①经遗传平衡定律检验,研究对象CTLA-4各基因型频率分布均符合Hardy-Weinberg平衡法则,具有群体代表性。②CTLA-4基因SNP-1722、SNP-1661、SNP+49位点各基因型频率和等位基因频率在病例组与对照组中的分布无统计学意义(P>0.05);CTLA-4基因SNP-318(C/T)的CC基因型在病例组中的分布频率明显高于对照组,CT基因型在病例组中的分布频率明显低于对照组,差异具有统计学意义(P=0.003,OR=1.941;P=0.007,OR=0.546),而TT基因型在病例组和对照组之间差异无统计学意义(P=0.345,OR=0.237);卡方检验后,C等位基因在病例组中的频率明显高于对照组,而T等位基因在病例组中的频率明显低于对照组,差异均具有统计学意义(P=0.002,OR=1.853;P=0.002,OR=0.540)。③CTLA-4基因四个SNPs位点之间两两连锁不平衡(D’>0.8)。④CTLA-4基因SNP-1722、SNP-1661、SNP-318和SNP+49四个位点构建的单倍型中有9种保护性单倍型在病例组与对照组中具有统计学意义(P<0.05,OR<1);2种危险致病单倍型在两组中的分布具有统计学差异(P<0.05,OR>1)。
结论1、CTLA-4基因SNP-1722、SNP-1661、SNP+49多态性位点各基因型频率和等位基因频率在病例组与对照组中的分布无统计学意义,可能与宁夏汉族女性反复自然流产的易感性无关。2、CTLA-4基因SNP-318多态性与反复自然流产可能有一定的关联性,其CC、CT基因型可能是宁夏汉族女性反复自然流产的易感因素,同时携带T等位基因的个体发生反复自然流产的风险明显降低。3、CTLA-4基因四个SNPs位点两两之间连锁不平衡。4、CTLA-4基因构建的单倍型中,有9种单倍型很可能是宁夏汉族女性反复自然流产的保护性因素,2种单倍型可能是宁夏汉族女性反复自然流产的危险性因素。
目的研究细胞毒性T淋巴细胞相关抗原-4(CTLA-4)基因启动子区SNP-1722(T/C)、SNP-1661(A/G)、SNP-318(C/T)和第一外显子SNP+49(A/G)四个多态性位点在宁夏回族-汉族群体中的基因型频率和等位基因频率分布特征。
方法来源于宁夏医科大学附属医院健康体检者,回族208人(回族女性119人,回族男性89人),汉族317人(汉族女性223人,汉族男性94人),平均年龄(24.42±3.69)岁。均无慢性病史、无放射和化学药物治疗史、无自身免疫性疾病史,祖籍为宁夏的回族和汉族群体。应用PCR–RFLP技术对宁夏回族和汉族群体CTLA-4基因启动子区SNP-1722(T/C)、SNP-1661(A/G)、SNP-318(C/T)位点及第一外显子区SNP+49(A/G)位点分布进行检测。SPSS11.5软件计算基因型频率及等位基因频率,比较回-汉群体基因型频率和等位基因频率的差异,分析CTLA-4基因四个SNPs位点在宁夏回族-汉族群体中分布特征。
结果宁夏回族与汉族群体的CTLA-4基因SNP-1722、SNP-1661、SNP-318、SNP+49位点基因型频率及等位基因频率比较差异均无统计学意义(P>0.05)。合并宁夏回汉族群体,按性别重新分组后比较,显示CTLA-4基因SNP-1661,SNP-318,SNP+49三个位点基因型频率及等位基因频率差异均无统计学意义(P>0.05),而CTLA-4基因SNP-1722位点TT、TC和CC基因型频率在性别组间差异有统计学意义(χ2=9.280,P=0.010),其中CC基因型频率女性明显高于男性(16.08%vs7.11%,χ2=8.523,P=0.004),C等位基因频率从女性与男性的比较的P值看差异无统计学意义(χ2=2.162,P=0.141),但是显示C等位基因含量具有女性较男性高。
在国内不同地区之间CTLA-4基因SNP-1722、SNP-1661、SNP-318、SNP+49位点基因型频率及等位基因频率分布特征不尽一致;与不同国家和人种之间比较也得出相似结果。
结论宁夏回族与汉族群体的CTLA-4基因SNP-1722、SNP-1661、SNP-318、SNP+49位点基因型频率及等位基因频率分布特征可能相同,但SNP-1722位点CC基因型在男女之间存在差异。同时CTLA-4基因SNP-1722、SNP-1661、SNP-318、SNP+49多态性位点在国内不同地区,不同国家存在地域和种族差异。
Objective To investigate the correlation between 4 SNPs (SNP-1722(T/C)、SNP-1661(A/G)、SNP-318(C/T) polymorphisms in promotor region and the SNP+49(A/G) polymorphisms in exon 1 region of the cytotoxic T lymphocyte-associated antigen-4 gene) and recurrent spontaneous abortion (RSA) in Chinese women. By compare genotype distribution and allele frequency between the patient of recurrent spontaneous abortion (RSA) and normal pregnancy women, to approach the relationship about the haplotype of four SNPs of the cytotoxic T lymphocyte-associated antigen-4 gene with RSA.
Methods 242 patients of RSA were recruited from NingXia medical university genetic laboratory as study group with an average age of 27.97±4.49. 228 normal pregnancy women from Maternal and Child Health Hospital were as control group with an average age of 27.67±3.67. The Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) were used to analyse the genotype distribution and allele frequency of promoter region -1722, -1661, -318 and exon 1 region +49 positions in CTLA- 4 gene. The statistical analysis included chi-square test and SPSS11.5 software was used to analyze the data and calculated the distribution of genotype and frequency of allele. Hardy-Weinberg balance, linkage disequilibrium and haplotype analyzed by using software SHEsis.
Results①The genotype distribution of the 4 SNPs in CTLA-4 gene reached Hardy-Weinberg equilibrium, indicated that the population in present study were selected randomly.②There were no significantly different in genotype distribution and allele frequencies of CTLA-4 gene SNP-1722, SNP-1661, SNP+49 between the patient of RSA and normal pregnancy women (P>0.05).However, in case group, the frequency of CC genotype at the -318 position was statistically higher than controls, and the frequency of CT genotype was lower than controls (P=0.003,OR=1.941;P=0.007,OR=0.546); and the frequency of C allele in case was higher than control, but the frequency of T allele was lower than control (P=0.002,OR=1.853;P=0.002,OR=0.540).③Each pair of four SNPs in CTLA-4 gene were linkage disequilibrium (D’>0.8).④Among the haplotypes established by the 4 SNPs, there were nine kinds of protective haplotypes significantly different between case and control (P<0.05, OR<1), and two kinds of rise haplotypes also have significant difference between case and control (P<0.05, OR>1).
Conclusions (1) There were no significant differences in genotype distribution and allele frequencies of CTLA-4 gene SNP-1722, SNP-1661, SNP+49 between two groups. These polymorphisms locus may not associated with the susceptibility of RSA in NingXia female. (2) CTLA-4 gene SNP-318 polymorphism may have some relevance with RSA, and the CC, CT genotype probably associated with the susceptibility of RSA in NingXia female. Individuals who carry T allele the risk of occur RSA will be significantly decreased. (3) Each pair of 4 SNPs were linkage disequilibrium. (4) The four SNPs in CTLA-4 gene may have nine kinds of protective haplotypes and two kinds of rise haplotypes.
Objective To study the distribution traits of genotype and allele frequencies of cytotoxic T lymphocyte-associated antigen-4 gene promoter region SNP-1722(T/C), SNP-1661(A/G), SNP-318(C/T) and exon 1 region SNP+49(A/G) polymorphism in Ningxia Hui-Han population.
Methods 525 healthy people from NingXia medical university affiliated hospital were slected as study group with an average age of 24.42±3.69. (208 hui population and 318 Han population). All subjects have no history of chronic disease, radio-chemotherapy and autoimmunity disease, ancestry are hui and han nationality. PCR-RFLP method was used to determine the distribution of CTLA-4 gene promoter region SNP-1722(T/C), SNP-1661(A/G), SNP-318(C/T) and exon 1 region SNP+49(A/G) polymorphisms in Hui-Han population. The distribution of genotype and frequency of allele were calculated by SPSS11.5 software to analyze the difference of CTLA-4 gene four SNPs sites between hui and han population. Hardy-Weinberg of the four SNPs sites were evaluated by SHEsis software.
Results There were no significantly different in genotype frequencies and allele frequencies of CTLA-4 gene SNP+49, SNP-318, SNP-1661, SNP-1722 between Hui and Han population (P>0.05). With the combination of Hui and Han population of Ningxia, and then divide into two groups as sex, the genotype distribution and allele frequency of CTLA-4 gene SNP-1661, SNP-318, SNP+49 have no significant difference between Hui and Han population (P>0.05), but the genotype frequencies at -1722 position have significant difference between female and male (χ2=9.280,P=0.010) , and the CC genotype in female was higher than male (16.08%vs7.11%,χ2=8.523,P=0.004). Although there was no significant difference between female and male in the frequency of the C allele at -1722 position (χ2=2.162, P=0.141), it shows that female tend to carry more C allele. The distribution traits of genotype and allele frequencies of cytotoxic T lymphocyte-associated antigen-4 gene of SNP-1722, SNP-1661, SNP-318, SNP+49 polymorphism sites were not all consistent in different Chinese area, as well as in other different contries and races.
Conclusions The distribution traits of allele and genotype frequencies of CTLA-4 gene SNP+49, SNP-318, SNP-1661, SNP-1722 positions may be similar with Hui and Han population of Ningxia, but there was significant difference between female and male in the frequency of the CC genotype at -1722 position. Meanwhile, the CTLA-4 gene SNP-1722, SNP-1661, SNP-318, SNP+49 polymorphisms sites have significantly different among different area and races in China and different contries.
方法选取2006年1月-2009年7月在宁夏医科大学生殖与遗传实验室进行染色体检查的反复自然流产者242例做为病例组,年龄19-42岁,平均年龄为27.97±4.49岁;选取2008年1月-2009年8月在银川市妇幼保健院住院分娩的正常孕妇228例做为对照组,年龄20-36岁,平均年龄为27.67±3.67岁。用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction- restricted fragment length polymorphism, PCR-RFLP)技术检测病例组与对照组CTLA-4基因四个位点多态性。SPSS11.5软件计算基因型频率,等位基因频率及比值比(OR),比较各组基因型频率和等位基因频率及进行相对危险度的估计,分析CTLA-4基因四个SNPs位点与反复自然流产的相关性,SHEsis软件构建单倍型探讨CTLA-4基因四个SNPs位点与反复自然流产的易感性是否有关联。
结果①经遗传平衡定律检验,研究对象CTLA-4各基因型频率分布均符合Hardy-Weinberg平衡法则,具有群体代表性。②CTLA-4基因SNP-1722、SNP-1661、SNP+49位点各基因型频率和等位基因频率在病例组与对照组中的分布无统计学意义(P>0.05);CTLA-4基因SNP-318(C/T)的CC基因型在病例组中的分布频率明显高于对照组,CT基因型在病例组中的分布频率明显低于对照组,差异具有统计学意义(P=0.003,OR=1.941;P=0.007,OR=0.546),而TT基因型在病例组和对照组之间差异无统计学意义(P=0.345,OR=0.237);卡方检验后,C等位基因在病例组中的频率明显高于对照组,而T等位基因在病例组中的频率明显低于对照组,差异均具有统计学意义(P=0.002,OR=1.853;P=0.002,OR=0.540)。③CTLA-4基因四个SNPs位点之间两两连锁不平衡(D’>0.8)。④CTLA-4基因SNP-1722、SNP-1661、SNP-318和SNP+49四个位点构建的单倍型中有9种保护性单倍型在病例组与对照组中具有统计学意义(P<0.05,OR<1);2种危险致病单倍型在两组中的分布具有统计学差异(P<0.05,OR>1)。
结论1、CTLA-4基因SNP-1722、SNP-1661、SNP+49多态性位点各基因型频率和等位基因频率在病例组与对照组中的分布无统计学意义,可能与宁夏汉族女性反复自然流产的易感性无关。2、CTLA-4基因SNP-318多态性与反复自然流产可能有一定的关联性,其CC、CT基因型可能是宁夏汉族女性反复自然流产的易感因素,同时携带T等位基因的个体发生反复自然流产的风险明显降低。3、CTLA-4基因四个SNPs位点两两之间连锁不平衡。4、CTLA-4基因构建的单倍型中,有9种单倍型很可能是宁夏汉族女性反复自然流产的保护性因素,2种单倍型可能是宁夏汉族女性反复自然流产的危险性因素。
目的研究细胞毒性T淋巴细胞相关抗原-4(CTLA-4)基因启动子区SNP-1722(T/C)、SNP-1661(A/G)、SNP-318(C/T)和第一外显子SNP+49(A/G)四个多态性位点在宁夏回族-汉族群体中的基因型频率和等位基因频率分布特征。
方法来源于宁夏医科大学附属医院健康体检者,回族208人(回族女性119人,回族男性89人),汉族317人(汉族女性223人,汉族男性94人),平均年龄(24.42±3.69)岁。均无慢性病史、无放射和化学药物治疗史、无自身免疫性疾病史,祖籍为宁夏的回族和汉族群体。应用PCR–RFLP技术对宁夏回族和汉族群体CTLA-4基因启动子区SNP-1722(T/C)、SNP-1661(A/G)、SNP-318(C/T)位点及第一外显子区SNP+49(A/G)位点分布进行检测。SPSS11.5软件计算基因型频率及等位基因频率,比较回-汉群体基因型频率和等位基因频率的差异,分析CTLA-4基因四个SNPs位点在宁夏回族-汉族群体中分布特征。
结果宁夏回族与汉族群体的CTLA-4基因SNP-1722、SNP-1661、SNP-318、SNP+49位点基因型频率及等位基因频率比较差异均无统计学意义(P>0.05)。合并宁夏回汉族群体,按性别重新分组后比较,显示CTLA-4基因SNP-1661,SNP-318,SNP+49三个位点基因型频率及等位基因频率差异均无统计学意义(P>0.05),而CTLA-4基因SNP-1722位点TT、TC和CC基因型频率在性别组间差异有统计学意义(χ2=9.280,P=0.010),其中CC基因型频率女性明显高于男性(16.08%vs7.11%,χ2=8.523,P=0.004),C等位基因频率从女性与男性的比较的P值看差异无统计学意义(χ2=2.162,P=0.141),但是显示C等位基因含量具有女性较男性高。
在国内不同地区之间CTLA-4基因SNP-1722、SNP-1661、SNP-318、SNP+49位点基因型频率及等位基因频率分布特征不尽一致;与不同国家和人种之间比较也得出相似结果。
结论宁夏回族与汉族群体的CTLA-4基因SNP-1722、SNP-1661、SNP-318、SNP+49位点基因型频率及等位基因频率分布特征可能相同,但SNP-1722位点CC基因型在男女之间存在差异。同时CTLA-4基因SNP-1722、SNP-1661、SNP-318、SNP+49多态性位点在国内不同地区,不同国家存在地域和种族差异。
Objective To investigate the correlation between 4 SNPs (SNP-1722(T/C)、SNP-1661(A/G)、SNP-318(C/T) polymorphisms in promotor region and the SNP+49(A/G) polymorphisms in exon 1 region of the cytotoxic T lymphocyte-associated antigen-4 gene) and recurrent spontaneous abortion (RSA) in Chinese women. By compare genotype distribution and allele frequency between the patient of recurrent spontaneous abortion (RSA) and normal pregnancy women, to approach the relationship about the haplotype of four SNPs of the cytotoxic T lymphocyte-associated antigen-4 gene with RSA.
Methods 242 patients of RSA were recruited from NingXia medical university genetic laboratory as study group with an average age of 27.97±4.49. 228 normal pregnancy women from Maternal and Child Health Hospital were as control group with an average age of 27.67±3.67. The Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) were used to analyse the genotype distribution and allele frequency of promoter region -1722, -1661, -318 and exon 1 region +49 positions in CTLA- 4 gene. The statistical analysis included chi-square test and SPSS11.5 software was used to analyze the data and calculated the distribution of genotype and frequency of allele. Hardy-Weinberg balance, linkage disequilibrium and haplotype analyzed by using software SHEsis.
Results①The genotype distribution of the 4 SNPs in CTLA-4 gene reached Hardy-Weinberg equilibrium, indicated that the population in present study were selected randomly.②There were no significantly different in genotype distribution and allele frequencies of CTLA-4 gene SNP-1722, SNP-1661, SNP+49 between the patient of RSA and normal pregnancy women (P>0.05).However, in case group, the frequency of CC genotype at the -318 position was statistically higher than controls, and the frequency of CT genotype was lower than controls (P=0.003,OR=1.941;P=0.007,OR=0.546); and the frequency of C allele in case was higher than control, but the frequency of T allele was lower than control (P=0.002,OR=1.853;P=0.002,OR=0.540).③Each pair of four SNPs in CTLA-4 gene were linkage disequilibrium (D’>0.8).④Among the haplotypes established by the 4 SNPs, there were nine kinds of protective haplotypes significantly different between case and control (P<0.05, OR<1), and two kinds of rise haplotypes also have significant difference between case and control (P<0.05, OR>1).
Conclusions (1) There were no significant differences in genotype distribution and allele frequencies of CTLA-4 gene SNP-1722, SNP-1661, SNP+49 between two groups. These polymorphisms locus may not associated with the susceptibility of RSA in NingXia female. (2) CTLA-4 gene SNP-318 polymorphism may have some relevance with RSA, and the CC, CT genotype probably associated with the susceptibility of RSA in NingXia female. Individuals who carry T allele the risk of occur RSA will be significantly decreased. (3) Each pair of 4 SNPs were linkage disequilibrium. (4) The four SNPs in CTLA-4 gene may have nine kinds of protective haplotypes and two kinds of rise haplotypes.
Objective To study the distribution traits of genotype and allele frequencies of cytotoxic T lymphocyte-associated antigen-4 gene promoter region SNP-1722(T/C), SNP-1661(A/G), SNP-318(C/T) and exon 1 region SNP+49(A/G) polymorphism in Ningxia Hui-Han population.
Methods 525 healthy people from NingXia medical university affiliated hospital were slected as study group with an average age of 24.42±3.69. (208 hui population and 318 Han population). All subjects have no history of chronic disease, radio-chemotherapy and autoimmunity disease, ancestry are hui and han nationality. PCR-RFLP method was used to determine the distribution of CTLA-4 gene promoter region SNP-1722(T/C), SNP-1661(A/G), SNP-318(C/T) and exon 1 region SNP+49(A/G) polymorphisms in Hui-Han population. The distribution of genotype and frequency of allele were calculated by SPSS11.5 software to analyze the difference of CTLA-4 gene four SNPs sites between hui and han population. Hardy-Weinberg of the four SNPs sites were evaluated by SHEsis software.
Results There were no significantly different in genotype frequencies and allele frequencies of CTLA-4 gene SNP+49, SNP-318, SNP-1661, SNP-1722 between Hui and Han population (P>0.05). With the combination of Hui and Han population of Ningxia, and then divide into two groups as sex, the genotype distribution and allele frequency of CTLA-4 gene SNP-1661, SNP-318, SNP+49 have no significant difference between Hui and Han population (P>0.05), but the genotype frequencies at -1722 position have significant difference between female and male (χ2=9.280,P=0.010) , and the CC genotype in female was higher than male (16.08%vs7.11%,χ2=8.523,P=0.004). Although there was no significant difference between female and male in the frequency of the C allele at -1722 position (χ2=2.162, P=0.141), it shows that female tend to carry more C allele. The distribution traits of genotype and allele frequencies of cytotoxic T lymphocyte-associated antigen-4 gene of SNP-1722, SNP-1661, SNP-318, SNP+49 polymorphism sites were not all consistent in different Chinese area, as well as in other different contries and races.
Conclusions The distribution traits of allele and genotype frequencies of CTLA-4 gene SNP+49, SNP-318, SNP-1661, SNP-1722 positions may be similar with Hui and Han population of Ningxia, but there was significant difference between female and male in the frequency of the CC genotype at -1722 position. Meanwhile, the CTLA-4 gene SNP-1722, SNP-1661, SNP-318, SNP+49 polymorphisms sites have significantly different among different area and races in China and different contries.
引文
[1]林其德.免疫所致复发性流产和习惯性流产[J].中华妇产科杂志, 2002, 12 (35) : 760.
[2] Lee GM, Kline J, King MC. Clustering of fetal loss in families [J]. Am J Epidemiol, 1991, 134 : 769-770.
[3]赵爱民,林其德. Th1/Th2型细胞因子与复发性流产相关[J].上海第二医科大学学报, 2000, 20 : 16-18.
[4] Kewin JH, Lim MB. The role of T 2 helper cytokines in human reproduction [J]. Fertil Steril, 2000 (1) : 136-142.
[5] Kamali-Sarvestani E, Zolghadri J, Gharesi-Fard B, et al. Cytokine gene polymorphisms and susceptibility to recurrent pregnancy loss in Iranian women [J]. J Reprod Immunol, 2005, 65 (2) : 171-178.
[6] Hill JA, Polgar k, Anderson DJ. T helper 1 immunity to trophoblasts in women with recurrent spontaneous abortion [J]. JAMA, 1995, 273: 1993-1996.
[7]于爱莲,张丰雪,杨春贵,等.反复自然流产与白细胞介素关系的研究[J].中国实用妇科与产科杂志, 2000, 16 (4) : 227-229.
[8]李昭荣,韩香,吕海侠,等. Thl/Th2型细胞因子与反复自然流产的关系[J].西安交通大学学报, 2006, 24 (3) : 255-257.
[9] Daher S, Denardi K, Blotta M, et al. Cytokines in recurrent pregnancy loss[J]. J Reprod Immunol, 2004, 62 : 151-157.
[10]刘梅,龚伊,张先君.单核苷酸多态性在原因不明习惯性流产中的研究进展[J].生殖与避孕, 2007, 27 (2) : 128-132.
[11]唐玉兰,郑金瓯. CD28:CTLA-4/B7及CD40/CD40L与多发性硬化[J].医学综述, 2008, 14 (2) : 164-166.
[12]Krummel MF, Allison JP. CTLA-4 engagement inhibits IL-2 accumulation and cell cycle progression upon activation of resting T cells[J]. J Exp Med, 1996, 183 : 2533-2540.
[13]David MS, Claire NM, Zheng Y. What′s the difference between CD80 and CD86[J]. Trends Immunol, 2003, 24 (6) : 313-318.
[14]Walunas TL, Lenschow DJ, Bakker CY. CTLA-4 can function as a negative regulator of T cell activation[J]. Immunity, 1994, 1 : 405-413.
[15]Ligers A, Teleshova N, Masterman T, et al. CTLA-4 gene expression is influenced by promoter and exon 1 polymorphisms[J]. Genes Immun, 2001, 2 (3) : 145-152.
[16]Kouki T, Sawai Y , Gardine CA, et al. CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves’disease[J]. J Immunol, 2000, 165 (11) : 6606-6611.
[17]毛海婷,王雄彪,张玲,等. CTLA-4在重症肌无力患者中的表达及其多态性导致的无效转录研究[J].中华微生物学和免疫学杂志, 2005, 25 (4) : 257-262.
[18]Qian F, Kruse U, Lichter P, et al. Chromosomal localization of the four genes (NF1A, B, C and X) for the human transcription factor nuclear factor 1 by FISH[J]. Genomics, 1995, 28 : 66-73.
[19]Jones KA, Kadonaga JT, Rosenfeld PJ, et al. A cellular DNA-binding protein that activates eukaryotic transcription and DNA replication[J]. Cell, 1987, 48 : 79-89.
[20]Zahnow CA. CCAAT/enhancer binding proteins in normal mammary development and breast cancer[J]. Breast Cancer Res, 2002, 4 : 113-121.
[21]Kaufman KA, Bowen JA, Tsai AF, et al. The CTLA-4 gene is expressed in placental fibroblasts[J]. Mol Hum Reprod, 1999, 5 : 84-87.
[22]Tsai AF, Kaufman KA, Walker MA, et al. Transmission disequilibrium of maternally-inherited CTLA-4 microsatellite alleles in idiopathic recurrent miscarriage[J]. J Reprod Immunol, 1998, 40 : 147-157.
[23]Harper K, Balzano C, Rouvier E, et al. CTLA-4 and CD28 activated lymphocyte molecules are closely related in both mouse and human as to sequency, message expression, gene structure, and chromosomal location[J].J Immunol, 1991, 147 : 1037-1044.
[24]汪希鹏,林其德,马政文,等.原因不明复发性流产患者细胞毒性T淋巴细胞抗原4基因第一外显子49位点A/G基因多态性研究[J].中华妇产科杂志, 2006, 1 (3) :155-159.
[25]Ueda H, Howson JM , Esposito L, et al. Association of the T-cell regulatory gene CTLA-4 with susceptibility to autoimmune disease[J]. Nature, 2003, 423 : 506-511.
[26]Yang KD, Liu CA, Chang JC, et al. Polymorphism of the immune-braking gene CTLA-4 (+49) involved in gender discrepancy of serum total IgE levels and allergic diseases[J]. Clin Exp Allergy, 2004, 34 : 32-37.
[27]Hudson LL, Rocca K, Song YW, et al. CTLA-4 gene polymorphisms in systemic lupus erythematosus: a highlysignificant association with a determinant in the promoter region[J]. Hum Genet, 2002, 111 : 452-455.
[28]Deichman K, Heinzmann A, Bruggenolte E. An Mse I RFLP in the human CTLA -4 promoter[J]. Biochem Biophys Res Commun, 1996, 225 : 817-818.
[29]范列英,朱烨,仲人前,等.中国人自身免疫性肝病相关性CTLA-4基因多态性研究[J].中华医学遗传学杂志, 2004, 21 (5) : 440-443.
[30]Zhang W, Collins A, Maniatis N, et al. Properties of linkage disequilibrium (LD) maps[J]. Proc Natl Acad Sci USA, 2002, 99 : 17004-17007.
[31]Shi YY, He L. SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci[J].Cell Res, 2005, 15 (2) : 97-98.
[32]Diejomaoh MF, Al-Azemi M, Jirous J, et al. The atiology and pattern of recurrent pregnancy loss[J]. J Obstet Gynaeco, 2002, 22 : 62-67.
[33]Mellor AL, Munn DH. Immunology at the maternal-fetal interface: lessons for T cell tolerance and suppression[J]. Annu Rev Immunol, 2000 : 367-391.
[34]Wegmann TG, Lin H, Guilbert L, et al. Bidirectional cytokine interactions in the maternal-fetal relationship: is successful pregnancy a Th2 phenomenon? [J]. Immunol Today, 1993, 14 : 353-356.
[35]邱丽华.原因不明复发性流产与Th1/Th2型细胞因子[J].国外医学·计划生育分册, 2000, 19 (1) : 20-23.
[36]Dariavach P, Mattei M.G, Lefrane GP, et al. Human Ig superfamily CTLA4 gene: Chromosomal localization and identity of Protein sequence between murine and human CTLA4 cytoplasmicdomains[J]. Eur J Immunogenet, 1988, 18 : 1901-1905.
[37]姜博仁,张胜兰. CTLA-4基因多态性与格雷夫斯病相关性的研究进展[J].实用医药杂志, 2004, 21 (4) : 375-376.
[38]Chen W, Jin W, Wahl SM. Engagement of cytotoxic T lymphocyte-associated antigen 4(CTLA-4) induces transforming growth factor beta (TGF-beta) production bymurine CD4(+) T cells[J]. J Exp Med, 1998, 188 : 1849-1857.
[39]Blair PJ, Riley JL, Levine BL, et al. Cutting edge: CTLA-4 ligation delivers a unique signals to resting human CD4 T cells that inhibits interleukin-2 secretion but allows Bcl-xL induction[J]. J Immunol, 1998, 160 : 12-15.
[40]Dias SDR, Rudd CE. CTLA-4 blockade of antigen-induced cell death[J]. Blood, 2001, 97 : 1134-1137
[41]Pritchard JK, Przeworski M. Linkage disequilibrium in humans: models and data [J]. Am J Hum Genet, 2001, 69 : 1-14.
[42]Ardlie KG, Kruglyak L, Seielstad M. Patterns of linkage disequilibrium in the human genome[J]. Nat Rev Genet, 2002, 3 : 299-309.
[1]周峰,夏冰,郭秋莎,等.细胞毒T淋巴细胞相关抗原4基因多态性与溃疡性结肠炎[J].中华内科杂志, 2006, 45 (6) : 478-481.
[2]徐安平,尹培达,苏晓燕.中国人CTLA-4基因-1722位点多态性与系统性红斑狼疮的相关性[J].第一军医大学学报, 2004, 24 (10) : 1107-1112.
[3]李恒,傅振坤,王丽虹,等.细胞毒T淋巴细胞相关抗原4基因多态性与乳腺癌易感性的关联研究[J].细胞与分子免疫学杂志, 2008, 24 (3) : 282-284.
[4]高淑娜,姜综敏,孟炜,等.细胞毒性T淋巴细胞相关抗原-4基因启动子区多态性与系统性红斑狼疮的遗传易感性[J].复旦学报(医学版), 2007, 34 (2) : 193-197.
[5]徐安平,尹培达,苏晓燕.系统性红斑狼疮患者CTLA-4基因-1661位点多态性研究[J].福建医科大学学报, 2004, 38 (4) : 404-407.
[6]周树录,叶任高,张虹,等. CTLA-4基因启动子区-318位点基因多态性与SLE的相关性研究[J].新医学, 2003, 34 (5) : 291-293.
[7]钱力.小儿支气管哮喘与细胞毒T淋巴细胞相关抗原4(CTLA-4)基因多态性的相关性研究:[学位论文],吉林:吉林大学,2004
[8] Rasmussen HB, Kelly MA, Francis DA, et al. CTLA4 in multiple sclerosis. Lack of genetic association in a European Caucasian population but evidence of interaction with HLA-DR2 among Shanghai Chinese[J]. J Neurol Sci, 2001, 184 : 143-147.
[9]唐果. CTLA-4基因单核苷酸多态性与白癜风相关性研究:[学位论文],西安:第四军医大学,2007
[10]杜亦陶,张勤,李梅,等. Graves病白细胞减少与CTLA-4基因多态性的相关性[J].天津医药, 2005, 33 (10) : 624-626.
[11]Wu J, Tang J.L, Wu S.J, et al. Functional polymorphism of CTLA-4 and ICOS genes in allogeneic hematopoietic stem cell transplantation[J]. Clinica Chimica Acta, 2009, 403 : 229-233.
[12]Lee C-S, Lee Y-J, Liu H-F, et al. Association of CTLA4 gene A-G polymorphism with rheumatoid arthritis in Chinese[J].Clin Rheumatol, 2003, 22 : 221-224.
[13]Liu M.F, Wang C.R, Lin L.C, et al. CTLA-4 gene polymorphism in promoter and exon-1 regions in Chinese patients with systemic lupus erythematosus[J]. Lupus, 2001, 10 : 647-649.
[14]王娈,于宏伟,闫胜利,等.细胞毒性T淋巴细胞相关抗原4基因多态性与中国汉族人1型糖尿病、自身免疫性甲状腺病的相关性研究[J].中华内分泌代谢杂志, 2001, 17 (4) : 228-231.
[15]张京玲. CTLA-4第一外显子49位点A/G多态性与Graves病药物治疗停药后复发的相关性研究:[学位论文],青岛:青岛大学,2005
[16]冯照雷. CTLA-4基因外显子1A/G49多态性与SLE和RA易感相关性及sCTLA-4在SLE和RA病人的表达:[学位论文],山东:山东大学,2005
[17]向斌,周智广,杨琳,等. CTLA-4基因外显子1 A/ G49多态性与特发性1型糖尿病的相关性研究[J].医学临床研究, 2006, 23 (10) : 1521-1523.
[18]Yung E, Cheng P.S, Fok T.F, et al. CTLA-4 gene A–G polymorphism and childhood Graves’disease[J]. Clin Endocrinol, 2002, 56 : 649-653.
[19]Han S.Z, Zhang S.H, Zhang W.Y, et al. CTLA4 Polymorphisms and Ophthalmopathy in Graves’Diseas Patients:Association Study and Meta-Analysis[J]. Hum Immunol, 2006, 67 : 618-626.
[20]Osei-Hyiaman D, Hou L.F, Ren Z.Y, et al. Association of a Novel Point Mutation (C159G) of the CTLA4 Gene With Type 1 Diabetes in West Africans but not in Chinese[J]. Diabetes, 2001, 50 : 2169-2171.
[21]彭学标,朱晓亮.系统性红斑狼疮与CTLA-4基因多态性的相关性研究[J].免疫学杂志, 2001, 17 (5) : 399-401.
[22]余绮玲,陈定宇,肖正华,等.广东人汉族群CTLA-4基因外显子1多态性与Graves病的相关性[J].解剖学研究, 2006, 28 (4) : 278-281.
[23]胡晓蕾,代亚美. CTLA-4基因外显子1的49位点A/G多态性与吉兰-巴林综合征的关联研究[J].黑龙江医学, 2007, 31 (12) : 886-888.
[24]刘巍,李为民,李悦,等. CTLA- 4基因多态性与特发性扩张型心肌病的相关性[J].中国免疫学杂志, 2007, 23 (1) : 66-69.
[25]刘英,刘巍,李为民,等.特发性扩张型心肌病CT LA- 4基因外显子A /G多态性与sCTLA4及Th1 /Th2偏离的相关性研究[J].中华医学杂志, 2005, 85 (45) : 3221-3224.
[26]张绍维,丁丽,李鹏飞,等. 1型糖尿病患者及其父母细胞毒性T淋巴细胞相关抗原4基因外显子1A/G49多态性的研究[J].中国医学杂志, 2005, 85 (11) : 788-789.
[27]顾雁. CTLA-4基因外显子1的49位点基因多态性与T2DM:[学位论文],大连:大连医科大学,2006
[28]张亚飞,解俊侠,郜玉峰,等.慢性HBV感染者外周血单个核细胞CTLA-4基因多态性与病情转归的关联研究[J].实用肝脏病杂志, 2008, 11 (5) : 297-299.
[29]汪希鹏,林其德,马政文,等.原因不明复发性流产患者细胞毒性T淋巴细胞抗原4基因第一外显子49位点A/G基因多态性研究[J].中华妇产科杂志, 2006, 41 (3) : 155-158.
[30]Cai L, Zhang DQ, Shi YQ, et al. Association of the CTLA-4 gene with rheumatoid arthritis in Chinese Han population[J]. Eur J Hum Genet, 2005, 13 : 823-828.
[31]Hudson L.L, Rocca K, Song Y.W, et al. CTLA-4 gene polymorphisms in systemic lupus erythematosus: a highly significant association with a determinant in the promoter region[J]. Hum Genet, 2002, 111 : 452-455.
[32]Erfani N, Razmkhah M, Talei A.R, et al. Cytotoxic T lymphocyte antigen-4 promoter variants in breast cancer[J]. Cancer Genet Cytogenet, 2006, 165 : 114-120.
[33]Baniasadi V, Narain N, Goswami R, et al. Promoter region -318 C/ T and -1661 A/G CTLA-4 single nucleotide polymorphisms and type 1 diabetes in North Indians[J]. J Compilat, 2006, 67 : 383-389.
[34]Parks CG, Hudson LL, Cooper GS, et al. CTLA-4 gene polymorphisms and systemic lupus erythematosus in a population-based study of whites and African-Americans in the southeastern United States[J]. Lupus, 2004, 13 : 784-791.
[35]Bouqbis L, Izaabel H, Akhayat O, et al. Association of the CTLA4 promoter region (-1661G allele) with type 1 diabetes in the South Moroccan population[J]. Genes and Immunity, 2003, 4 : 132-137.
[36]Aguilar F, Torres B, Sa′nchez-Roma′n J, et al. CTLA4 polymorphism in spanish patients with systemic lupus erythematosus[J]. Hum Immunol, 2003, 64 : 936-940.
[37]Barton A, Jury F, Eyre S, et al. Haplotype analysis in simplex families and novel analytic approaches ina case–control cohort reveal no Evidence of Association of the CTLA-4 Gene With Rheumatoid Arthritis[J]. Arthritis & Rheumatism, 2004, 50 : 748-752.
[38]Chistiakov D.A, Savost’anov K.V, Turakulov R.I, et al. Genetic analysis and functional evaluation of the C/T(-318) and A/G(-1661) polymorphisms of the CTLA-4 gene in patients affected with Graves’disease[J]. Clin Immunol, 2006, 118 : 233-242.
[39]Esteghamati A, Khalilzadeh O, Mobarra Z, et al. Association of CTLA-4 gene polymorphism with Graves' disease and ophthalmopathy in Iranian patients[J]. Eur J Internal Med, 2009, 20 : 424-428.
[40]Tsunemi Y, Saeki H, Kishimoto M, et al. Cytotoxic T lymphocyte antigen-4 gene (CTLA4) polymorphisms in Japanese patients with psoriasis vulgaris[J]. J Dermatol Sci, 2003, 32 : 163-165.
[41]Machida H, Tsukamoto K, Wen C.Y, et al. Association of polymorphic alleles of CTLA4 with inflammatory bowel disease in the Japanese[J]. World J Gastroenterol, 2005, 11 (27) : 4188-4193.
[42]Fukazawa T, Kikuchi S, Miyagishi R, et al. CTLA-4 gene polymorphism is not associated with conventional multiple sclerosis in Japanese[J]. J Neuroimmunol, 2005, 159 : 225-229.
[43]Ahmed S, Ihara K, Kanemitsu S, et al. Association of CTLA-4 but not CD28 gene polymorphisms with systemic lupus erythematosus in the Japanese population [J]. Rheumatol, 2001, 40 : 662-667.
[44]Sohn M.H, MD, Kim S.H, Song T.W, et al. Cytotoxic T lymphocyte-associated antigen-4 gene polymorphisms confer susceptibility to atopic asthma in Korean children[J]. Pediat Pulmonol, 2007, 42 : 542-547.
[45]Kacem H.H, Bellassoued M, Bougacha-Elleuch N, et al. CTLA-4 gene polymorphisms in Tunisian patients with Graves’Disease[J]. Clin Immunol, 2001, 101 : 361-365.
[46]Gorgi Y, Sfar I, Abdallah T.B, et al. CTLA-4 exon 1 (+49) and promoter (-318) gene polymorphisms in kidney transplantation[J]. Transplantation Proceedings, 2006, 38 : 2303-2305.
[47]Kantarci O.H, Hebrink D.D, Achenbach S.J, et al. CTLA4 is associated with susceptibility to multiple sclerosis[J]. J Neuroimmunol, 2003, 134 : 133-141.
[48]Balic I, Angel B, Codner E, et al. Association of CTLA-4 polymorphisms and clinical-immunologic characteristics at onset of type 1 diabetes mellitus in children[J]. Hum Immunol, 2009, 70 : 116-120.
[49]Malferrari G, Stella A, Monferini E, et al. CTLA4 and multiple sclerosis in the Italian population[J]. Exp Mol Pathol, 2005, 78 : 55-57.
[50]Monne M, Piras G, Palmas A, et al. Cytotoxic T-lymphocyte antigen-4 (CTLA-4) gene polymorphism and susceptibility to Non-Hodgkin’s lymphoma[J]. Am J Hematol, 2004, 76 : 14-18.
[51]Sahin M, Erdogan M.F, Erdogan G. Cytotoxic T lymphocyte-associated molecule-4 polymorphisms in Turkish Graves’disease patients and association with probability of remission after antithyroid therapy[J]. Eur J Internal Med, 2005, 16 : 352-355.
[52]Veena T, Crusius J.B.A, Winsen L, et al. CTLA-4 and CD28 gene polymorphisms in susceptibility, clinical course and progression of multiple sclerosis[J]. J Neuroimmunol, 2003, 140 : 188-193
[53]Xia B, Crusius J.B.A, Wu J, et al. CTLA4 gene polymorphisms in dutch and chinese patients with inflammatory bowel disease[J]. Scand J Gastroenterol, 2002, 11: 1296-1270.
[54]Wang XB, Kakoulidou M, Qiu Q, et al. CDS1 and promoter single nucleotide polymorphisms of the CTLA-4 gene in human myasthenia gravis[J]. Genes and Immunity, 2002, 3 : 46-49.
[55]Ligers A, Xu C, Saarinen S, et al. The CTLA-4 gene is associated with multiple sclerosis[J]. J Neuroimmunol, 1999, 97 : 182-190.
[56]Heggarty S, Suppiah V, Silversides J, et al. CTLA4 gene polymorphisms and multiple sclerosis in Northern Ireland[J]. J Neuroimmunol, 2007, 187 : 187-191
[57]Vaidya B, Oakes E.J.C., Imrie H, et al. CTLA4 gene and Graves’disease: association of Graves’disease with the CTLA4 exon 1 and intron 1 polymorphisms, but not with the promoter polymorphism[J]. Clin Endocrinol, 2003, 58 : 732-735.
[58]Suwalska K, Pawlak E, Karabon L, et al. Association studies of CTLA-4, CD28, and ICOS gene polymorphisms with B-cell chronic lymphocytic leukemia in the Polish population[J]. Hum Immunol, 2008, 69 : 193-201.
[59]Rasmussen H.B, Kelly M.A, Francis D.A, et al. CTLA4 in multiple sclerosis. Lack of genetic association in a European Caucasian population but evidence of interaction with HLA-DR2 among Shanghai Chinese[J]. J Neurol Sci, 2001, 184 : 143-147.
[60]Harbo H.F, Celius E.G, Vartdal F, et al. CTLA4 promoter and exon 1 dimorphisms in multiple sclerosis[J]. Tissue Antigens, 1999, 53 : 106-110.
[61]Douroudis K, Prans E, Uibo R. CTLA-4 promoter polymorphisms are associated with latent autoimmune diabetes in adults[J]. Hum Immunol, 2009, 70 : 921-924.
[62]Braun J, Donner H, Siegmund T, et al. CTLA4 promoter variants in patients with Graves' disease and Hashimoto's thyroiditis[J]. Tissue Antigens, 1998, 51 : 563-566.
[63]Awata T, Kurihara S, Iitaka M, et al. Association of CTLA-4 gene A-G polymorphism (IDDM12 locus) with acute-onset and insulin-depleted IDDM as well as autoimmune thyroid disease (Graves’disease and Hashimoto’s thyroiditis) in the Japanese population[J]. Diabetes, 1998, 47: 128-129.
[64]Abe T, Takino H, Yamasaki H, et al. CTLA4 gene polymorphism correlates with the mode of onset and presence of ICA512 Ab in Japanese Type 1 diabetes [J]. Diabetes Res Clin Prac, 1999, 46 : 169-175.
[65]Jun T.Y, Pae C.U, Chae J.H, et al. Polymorphism of CTLA-4 gene at position 49 of exon 1 may be associated with schizophrenia in the Korean population[J]. Psych Res, 2002, 110 : 19-25.
[66]Mojtahedi Z, Omrani G.R, Doroudchi M, et al. CTLA-4 +49 A/G polymorphism is associated with predisposition to type 1 diabetes in Iranians[J]. Diabetes Res Clin Prac, 2005, 68 : 111-116.
[67]Dehaghani A.S, Doroudchi M, Kalantari T, et al. Heterozygosity in CTLA-4 gene and severe preeclampsia[J]. Int J Gynecol Obst, 2005, 88 : 19-24.
[68]Klitz W, Bugawan TL, Panelo A, et al. Association of CTLA-4 variation with type I diabetes in Filipinos[J]. Immunogenet, 2002, 54 : 310-313.
[69]Marron M.P, Raffel L.J, Garchon H.J, et al. Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups[J]. Hum Mol Genet, 1997, 6 : 1275-1282.
[70]Momin S, Flores S, Angel B.B, et al. Interactions between programmed death 1 (PD-1) and cytotoxic T lymphocyte antigen 4 (CTLA-4) gene polymorphisms in type 1 diabetes[J]. Diabetes Res Clin Prac, 2009, 83 : 289-294.
[71]Fern(?)ndez-Mestre M, S(?)nchez K, Balb(?)s O, et al. In?uence of CTLA-4 gene polymorphism in autoimmune and infectious diseases[J]. Hum Immunol, 2009, 70 : 532-535.
[72]Douroudis K, Laine A.P, Heinonen M, et al. Association of CTLA4 but not ICOS polymorphisms with type 1 diabetes in two populations with different disease rates [J]. Hum Immunol, 2009, 70 : 536-539.
[73]Haller K, Kisand K, Nemvalts V, et al. Type 1 diabetes is insulin ?2221 MspI and CTLA-4 +49 A/G polymorphism dependent[J]. Eur J Clin Invest, 2004, 34 : 543-548.
[74]Mora B, Bonamico M, Indovina P, et al. CTLA-4 +49 A/G Dimorphism in Italian Patients With Celiac Disease[J]. Hum Immunol, 2003, 64 : 297-301.
[75]Barton A, Myerscough A, John S, et al. A single nucleotide polymorphism in exon 1 of cytotoxic T-lymphocyte-associated-4 (CTLA-4) is not associated with rheumatoid arthritis[J]. Rheumatol, 2000, 39 : 63-66.
[76]Gonzalez-Escribano M.F, Rodriguez R, Valenzuela A, et al. CTLA4 polymorphisms in Spanish patients with rheumatoid arthritis[J]. Tissue Antigens, 1999, 53 : 296-300.
[77]Heggarty S, Suppiah V, Silversides J, et al. CTLA4 gene polymorphisms and multiple sclerosis in Northern Ireland[J]. J Neuroimmunol, 2007, 187 : 187-191.
[78]McCormack R.M, Maxwell A.P, Carson D, et al. Possible association between CTLA4 DNA polymorphisms and early onset type 1 diabetes in a UK population[J]. Genes and Immunity, 2001, 2, 233.
[79]Milicic A, Brown M.A, Wordsworth B.P. Polymorphism in codon 17 of the CTLA-4 gene (+49 A/G) is not associated with susceptibility to rheumatoid arthritis in British Caucasians[J]. Tissue Antigens, 2001, 58 : 50-54.
[80]Wood JP, Pani MA, Bieda K, et al. A recently described polymorphism in the CD28 gene on chromosome 2q33 is no associated with susceptibility to type 1 diabetes[J]. Eur J Immunogenet, 2002, 29 : 347-349.
[81]Seldl C, Donner H, Fischer B, et al. CTLA4 codon 17 dimorphism in patients with rheumatoid arthritis[J]. Tissue Antigens, 1998, 51 : 62-66.
[82]Donner H, Braun J, Seidl C, et al. Codon 17 Polymorphism of the Cytotoxic T Lymphocyte Antigen 4 Gene in Hashimoto’s Thyroiditis and Addison’s Disease[J]. J Clin Endocrinol Metabol, 1997, 82 :4130-4132.
[83]Bilin′ska M, Frydecka I, Noga L, et al. Progression of multiple sclerosis is associated with exon 1 CTLA-4 gene polymorphism[J]. Acta Neurol Scand, 2004, 108 : 67-71.
[84]òuszczek W, Majorczyk E, Nockowski P, et al. Distribution of the CTLA-4 single nucleotide polymorphisms CT60G>A and +49A>G in psoriasis vulgaris patients and control individuals from a Polish Caucasian population[J]. Int J Immunogenet, 2007, 35 : 51-55.
[85]Belzen1 M.J, Mulder C.J.J, Zhernakova A, et al. CTLA4 +49 A/G and CT60 polymorphisms in Dutch coeliac disease patients[J]. Eur J Hum Genet, 2004, 12 : 782-785.
[86]Lorentzen A.R, Celius E.G, Ekstr(?)m P.O, et al. Lack of association with the CD28/CTLA4/ICOS gene region among Norwegian multiple sclerosis patients[J]. J Neuroimmunol, 2005, 166 : 197 -201.
[87] Andreevskii T.V, Sudomoina M.A, Gusev E.I, et al. Polymorphism A/G in Position +49 of CTLA4 Exon 1 in Multiple Sclerosis in Russians[J]. Mol Biol, 2002, 36 : 505-509.
[88]Soylemezoglu O, Peru H, Gonen S, et al. CTLA-4 +49 A/G genotype and HLA-DRB1 polymorphisms in Turkish patients with Henoch–Sch(?)nlein purpura[J]. Pediatr Nephrol, 2008, 23 : 1239-1244.
[89]Din(?)i(?) E, (?)ivkovi(?) M, Stankovi(?) A, et al. Association of polymorphisms in CTLA-4, IL-1ra and IL-1βgenes with multiple sclerosis in Serbian population[J]. J Neuroimmunol, 2006, 177 : 146-150.
[90]NisticòL, Buzzetti R, Pritchard L.E, et al. The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes[J]. Hum Mol Genet, 1996, 5 : 1075-1080.
[91]Djilali-Saiah I, Schmitz J, Harfouch-Hammoud E, et al. CTLA-4 gene polymorphism is associated with predisposition to coeliac disease[J]. Gut, 1998, 43 : 187-189.
[92]Fajardy I, Vambergue A, Stuckens C, et al. CTLA-4 49 A/G dimorphism and type 1 diabetes susceptibility a French case-control study and segregation analysis. Evidence of a maternal effect[J]. Eur J Immunogenet, 2002, 29 : 251-257.
[93]Bicek A, Zaletel K, Gaberscek S, et al. 49A/G and CT60 polymorphisms of the cytotoxic T-lymphocyte-associated antigen 4 gene associated with autoimmune thyroid disease[J]. Hum Immunol, 2009, 70 : 820-824.
[94]Pavkovic M, Georgievski B, Cevreska L, et al. CTLA-4 Exon 1 Polymorphism in Patients With Autoimmune Blood Disorders[J]. Am J Hematol, 2003, 72 : 147-149.
[95]Cinek O, Drevinek P, Sumnik Z, et al. The CTLA4 +49 A/G dimorphism is not associated with type 1 diabetes in Czech children[J]. Eur J Immunogenet, 2002, 29 : 219-222.
[96]Magyari L, FaragóB, Bene J, et al. No association of the cytotoxic T-lymphocyte associated gene CTLA4 +49A/G polymorphisms with Crohn’s disease and ulcerative colitis in Hungarian population samples[J]. World J Gastroenterol, 2007, 13 (15) : 2205-2208.
[97]Zalloua PA, Abchee A, Shbaklo H, et al. Patients with early onset of type 1 diabetes have significantly higher GG genotype at position 49 of the CTLA4 gene[J]. Hum Immunol, 2004, 65 : 719-724.
[98]Kacem H.H, Kaddour N, Adyel F.Z, et al. HLA-DQB1 CAR1/CAR2, TNFa IR2/IR4 and CTLA-4 polymorphisms in Tunisian patients with rheumatoid arthritis and Sj?gren’s syndrome[J]. Rheumatology, 2001, 40 : 1370-1374.
[99]Osei-Hyiaman D, Hou L, Zhiyin R, et al. Association of a Novel Point Mutation (C159G) of the CTLA4 Gene With Type 1 Diabetes in West Africans but not in Chinese[J]. Diabetes, 2001, 50 : 2169-2171.
[100]Wray B.N, Stankovich J, Whittock L, et al. CTLA-4 and multiple sclerosis: The A49G single nucleotide polymorphism shows no association with multiple sclerosis in a Southern Australian population [J]. J Neuroimmunol, 2008, 196 : 139-142.
[101]Shastry BS. SNP alleles in human disease and evolution[J]. J Hum Genet, 2002, 47: 561-566.
[102]Gray IC, Campbell DA, Spurr NK. Single nucleotide polymorphisms as tools in human genetics[J]. Hum Mol Genet, 2000, 9 (16) : 2403-2408.
[103]何云刚,金力,黄薇.单核苷酸多态性与连锁不平衡研究进展[J].基础医学与临床, 2004, 24 (5) : 487-490
[1] Abbas AK, Lohr J, Knoechel B, et al. T cell tolerance and autoimmunity[J]. Autoimmun Rev, 2004, 3 (728) : 471-475.
[2] Janeway CA, Bottomly K. Signals and signs for lymphocyte responses[J]. Cell, 1994, 76 (2) : 275-285.
[3]范祖森.共刺激信号与免疫耐受[J].国外医学·免疫学分册, 1997, 20 (5) : 244-247.
[4]汤复根,吴俊英.协同刺激分子B7-CD28/CTLA-4与自身免疫病[J].国际内科学杂志, 2007, 34 (4) : 232-235.
[5] Walunas TL, Lenschow DJ, Bakker CY. CTLA-4 can function as a negative regulator of T cell activation[J]. Immunity, 1994, 1 : 405-413.
[6] Krummel MF, Allison JP. CTLA-4 engagement inhibits IL-2 accumulation and cell cycle progression upon activation of resting T cells[J]. J Exp Med, 1996, 183 : 2533-2540.
[7] Linsley PS, Bradshaw J, Greene J, et al. Intracellular trafficking of CTLA-4 and focal localization towards sites of TCR engagement[J]. Immunity, 1996, 4 : 535-543.
[8] Balzano C, Buonavista N, Rouvier E, et al. CTLA-4 and CD28: similar proteins, neighbouring genes[J]. Int J Cancer, Suppl, 1992, 7 : 28-32.
[9] Salomon B, Bluestone JA. Complexities of CD28/B7: CTLA-4 costimulatory pathways in autoimmunity and transplantation[J]. Annu Rev Immunol, 2001, 19 (1) : 225-252.
[10]刘雅峰,郑克立.协同刺激分子B7:CD28/CTLA-4的研究进展[J].国外医学泌尿系统分册, 2004, 24 (6) : 732-735.
[11]Ogawa S, Nitta K, Hara Y, et al. CD28 knockout mice as a useful clue to examine the pathogenesis of chronic graft-versus-host reaction[J]. Kidney Internatial, 2000, 58 (5) : 2215-2220.
[12]June CH, Ledbetter JA, Linsley PS, et al. Role of the CD28 receptor in T-cell activation[J]. Immunol Today, 1990, 11 (6) : 211-216.
[13]Sharpe AH, Freeman GJ. The B7-CD28 superfamily[J]. Nat Rev Immunol, 2002, 2 (2) : 116-126.
[14]Chen W, Jin W, Wahl SM. Engagement of cytotoxic T lymphocyte-associated antigen 4(CTLA-4)induces transforming growth factor beta (TGF-beta) production bymurine CD4(+) T cells[J]. J Exp Med, 1998, 188 : 1849-1857.
[15]Dias SDR, Rudd CE. CTLA-4 blockade of antigen-induced cell death[J]. Blood, 2001, 97 : 1134-1137.
[16]Scheipers P, Reiser H. Fas-independent death of activated CD4(+) T lymphocyte induced by CTLA-4 crossing[J]. Proc Natl Acad Sci USA, 1998, 95 : 10083-10088.
[17]Alegre ML, Frauwirth KA, Thompson CB. T-cell regulation by CD28 and CTLA-4[J]. Nat Rev Immunol, 2001, 1 (3) : 220-228.
[18]姜博仁,张胜兰. CTLA-4基因多态性与格雷夫斯病相关性的研究进展[J].实用医药杂志, 2004, 21 (4) : 375-376.
[19]Ligers A, Teleshova N, Masterman T, et al. CTLA-4 gene expression is influenced by promoter and exon 1 polymorphisms[J]. Genes Immun, 2001, 2 (3) : 145-152.
[20]Kouki T, Sawai Y , Gardine CA, et al. CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves’disease[J]. J Immunol, 2000, 165 (11) : 6606-6611.
[21]毛海婷,王雄彪,张玲等.CTLA-4在重症肌无力患者中的表达及其多态性导致的无效转录研究[J].中华微生物学和免疫学杂志, 2005, 25 (4) : 257-262.
[22]Qian F, Kruse U, Lichter P, et al. Chromosomal localization of the four genes (NF1A, B, C and X) for the human transcription factor nuclear factor 1 by FISH[J]. Genomics, 1995, 28 : 66-73.
[23]Jones KA, Kadonaga JT, Rosenfeld PJ, et al. A cellular DNA-binding protein that activates eukaryotic transcription and DNA replication[J]. Cell, 1987, 48 : 79-89.
[24]Zahnow CA. CCAAT/enhancer binding proteins in normal mammary development and breast cancer[J]. Breast Cancer Res, 2002, 4 : 113-121.
[25]Zaletel K, Krhin B, Gaberscek S, et al. The influence of the exon 1 polymorphism of the cytotoxic T lymphocyte antigen 4 gene on thyroid antibody production in patients with newly diagnosed Graves′disease[J].Thyroid, 2002, 12 : 373-376.
[26]Zaletel K, Krhin B, Gaberscek S, et al. Thyroid autoantibody production is influenced by exon 1 andpromoter CTLA-4 polymorphisms in patients with Hashimoto′s thyroiditis[J]. Int J Immunogenet, 2006, 33 : 87-91.
[27]Xu Y, Graves PN, Tomer Y, et al. CTLA-4 and autoimmune thyroid disease: lack of influence of the A49G signal peptide polymorphism on functional recombinant human CTLA-4[J]. Cell Immunol, 2002, 215 : 133-140.
[28]Chistiakov DA, Savost’anov KV, Turakulov RI, et al. Genetic analysis and functional evaluation of the C/T (-318) and A/G (-1661) polymorphisms of the CTLA-4 gene in patients affected with Graves′disease[J]. Clin Immunol, 2006, 118 : 233-242.
[29]Wang XB, Zhao X, Giscombe R, et al. A CTLA-4 gene polymorphism atposition-318 in the promoter region affects the expression of protein[J]. Genes Immun, 2002, 3 : 233-234.
[30]Kaufman KA, Bowen JA, Tsai AF, et al. The CTLA-4 gene is expressed in placental fibroblasts[J]. Mol Hum Reprod, 1999, 5: 84-87.
[31]Tsai AF, Kaufman KA, Walker MA, et al. Transmission disequilibrium of maternally-inherited CTLA-4 microsatellite alleles in idiopathic recurrent miscarriage[J]. J Reprod Immunol, 1998, 40: 147-157.
[32]Harper K, Balzano C, Rouvier E, et al. CTLA-4 and CD28 activated lymphocyte molecules are closely related in both mouse and human as to sequency, message expression, gene structure, and chromosomal location[J]. J Immunol, 1991, 147 : 1037-1044.
[33]汪希鹏,林其德,马政文,等.原因不明复发性流产患者细胞毒性T淋巴细胞抗原4基因第一外显子49位点A/G基因多态性研究[J].中华妇产科杂志, 2006, 1 (3) :155-159.
[34]Adams DD, Knight JG. Principles of autoimmune disease: pathogenesis, genetics and specific immunotherapy [J]. J Clin Lab Immunol, 2003, 52 : 1-22.
[35]Knudsen N, Jorgensen T, Rasmussen S, et al. The prevalence of thyroid disfunction in a population with borderline iodine deficiency[J]. Clin Endocrinol, 1999, 51 : 361-367.
[36]Yanagawa T, Hidaka Y, Guimaraes V, et al.CTLA-4 gene polymorphism associated with Graves’disease in a Caucasian population[J]. J Clin Endocrinol Metab, 1995, 80 : 41-45.
[37]蒋玲,王桂兰,董建军,等.细胞毒性T淋巴细胞相关抗原-4基因多态性与中国汉族人Graves′
病的相关性研究[J].中华内分泌代谢杂志, 1999, 15 (5) : 315-316.
[38]Donner H, Braun J, Seidl C, et al. CTLA-4 alinine-17 confers genetic susceptibility to Grave’s disease and to type 1 diabetes mellitus[J]. J Clin Endocrinol Metab, 1997, 82 : 143-146.
[39]Antonio P, GabrieleG, AndreaG, et al. CT 60 single nucleotide polymorphisms of the cytotoxic T- lymphocyte associated antigen-4 gene region is associated with Graves′Disease in an Italian population[J]. thyroid, 2005, 15 (3) : 232-238.
[40]王巧宏,任跃忠.中国人CTLA4基因外显子l多态性与Graves病的相关性[J].中华内分泌代谢杂志, 2003, 19 : 297-299.
[41]金迎,贲松涛,膝卫平,等.细胞毒性T琳巴细胞相关杭原-4基因与中国北方汉族Graves病连锁关系研究[J].中华内科杂志, 2002, 41 : 809-812.
[42]姚斌,郑李歌,严晋华,等. CTLA-4基因多态性与中国南方汉族人Graves病的相关性[J].中华内分泌代谢杂志, 2006, 22 (4) : 363-367.
[43]Bednarczuk T, Hiromatsu Y, Fukutani T, et al. Association of cytotoxic T-lymphocyte associated antigen-4 (CTLA-4) gene polymorphism and non-genetic factors with Graves' ophthalmopathy in European and Japanese populations[J]. Eur J Endocrinol, 2003, 148 : 13-18.
[44]Yanagawa T, Taniyama M, Enomoto S, et al. CTLA4 gene polymorphism confers susceptibility to Graves' disease in Japanese[J]. Thyroid, 1997, 7 : 843-846.
[45]Vaidya B, Oakes EJ, Imrie H, et al. CTLA4 gene and Graves' disease: association of Graves' disease with the CTLA4 exon 1 and intron 1 polymorphisms, but not with the promoter polymorphism[J]. Clin Endocrinol, 2003, 58 : 732-735.
[46]Park YJ, Chung HK, Park DJ, et al. Polymorphism in the promoter and exon1of the cytotoxic T lymphocyte antigen-4 gene associated with autoimmune thyroid disease in Koreans[J]. Thyroid, 2000, 10 (6) : 453-459.
[47]Hadj K.H, Bellassoued M, Bougacha-Elleuch N, et al. CTLA-4 gene polymorphisms in Tunisian patients with Graves’disease[J]. J Clin Immunol, 2001, 101 : 361-365.
[48]Yung E, Cheng PS, Fok TF, et al. CTLA-4 gene A-G polymorphismand childhood Graves' disease[J].Clin Endocrinol, 2002, 56 : 649-653.
[49]周文旭,施秉银,王惠芳,等.细胞毒性T淋巴细胞相关抗原-4基因多态性与自身免疫性甲状腺病的相关性[J].西安交通大学学报(医学版), 2003, 24 (2) : 170-173.
[50]张勤,李梅,杜亦陶,等. Graves眼病与细胞毒性T淋巴细胞相关抗原-4基因启动子和外显子1多态性的相关性研究[J].中华内科杂志, 2004, 43 (3) : 214-215.
[51]Braun J, Donner H, Siegmund T, et al. CTLA-4 promoter variants in patients with Graves’disease and Hashimoto’s thyroiditis[J]. Tissue Antigens, 1998, 51 (5) : 563-566.
[52]Heward JM, Allahabadia A, Carr-Smith J, et al. No evidence for allelic association of a human CTLA-4 promoter polymorphism with autoimmune thyroid disease in either population-based case-control or family-based studies [J]. Clin Endocrinol, 1998, 49 (3) : 331-334.
[53]Heward JM, Allahabadia A, Armitage M, et al. The development of Graves’disease and the CTLA-4gene on chromosome2q33[J]. Clin Endocrinol Metab, 1999, 84 (7) : 2398-2401.
[54]Mehrian R, Quismorio FP, Strassmann G, et al. Synergistic effect between IL-10 and bcl-2 genotypes in determining susceptibility to systemic lupus erythematosus[J]. Arthris Rheum, 1998, 41 (2) : 596-602.
[55]Pullmann R Jr, Lukac J, Skerenova M, et al. Cytotoxic T lymphocyte antigen 4 (CTLA-4) dimorphism in patients with systemic lupus erythematosus[J]. Clin Exp Rheumatol, 1999, 17 : 725-729.
[56]Ahmed S, Ihara K, Kanemitsu S, et al. Association of CTLA-4 but not CD28 gene polymorphisms with systemic lupus erythematosus in the Japanese population[J]. Rheumatol, 2001, 40 : 662-667.
[57]彭学标,朱晓亮.系统性红斑狼疮与CTLA-4基因多态性的相关性研究[J].免疫学杂志, 2001, 17 (5) : 399-400.
[58]Parks CG, Hudson LL, Cooper GS, et al. CTLA-4gene polymorphisms and systemic lupus erythematosus in a population-based study of whites and African-Americans in the southeastern United States[J]. Lupus, 2004, 13 (10) : 784-791.
[59]Francisco A, Bele’n T, Julio SR, et al. CTLA4 polymorphism in Spanish Patients with Systemic Lupus Erythematosus[J]. Hum Immunol, 2003, 64: 936-940.
[60]Hudson LL, Rocca K, Song YW, et al. CTLA-4 gene polymorphisms in systemic lupus erythematosus:a highly significant association with a determinant in the promoter region[J]. Hum Genet, 2002, 111 (425) : 452-455.
[61]周树录,叶任高,张虹. CTLA-4基因启动子区-318位点基因多态性与SLE的相关性研究[J].新医学, 2003, 34 (5) : 291-293.
[62]高淑娜,姜综敏,孟炜.细胞毒性T淋巴细胞相关抗原-4基因启动子区多态性与系统性红斑狼疮的遗传易感性[J].复旦学报(医学版), 2007, 34 (2) : 193-197.
[63]Fernandez-Blanco L, Perez-Pampin E, Gomez-Reino JJ, et al. A CTLA-4 polymorphism associated with susceptibility to systemic lupus erthematosus[J].Arthritis Rheum, 2004, 50 (1) : 328-329.
[64]Aguilar F, Torres B, Sanchez-Roman J, et al. CTLA4 polymorphism in Spanish patients with systemic lupus erthematosus [J].Hum Immunol, 2003, 64 (10) : 936-940.
[65]徐安平,尹培达,苏晓燕.中国人CTLA-4基因-1722位点多态性与系统性红斑狼疮的相关性[J].第一军医大学学报, 2004, 24 (10) :1107-1112.
[66]徐安平,尹培达,苏晓燕.系统性红斑狼疮患者CTLA-4基因-1661位点多态性研究[J].福建医科大学学报, 2004, 38 (4) : 404-407.
[67]Mathis D, Vence L, Benoist C, et al. Beta-cell death during progression to diabetes[J]. Nature, 2001, 414 : 792-798.
[68]Nistico L, Buzzetn R, Pntchard LE, et al. The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with type 1 diabetes[J]. Hum Mol Genet, 1996, 5 : 1075-1080.
[69]Djilali-Saiah I, Larger E, Harfouch H, et al. No major role for the CTLA-4 gene in the association of autoimmune thyroid disease with IDDM[J]. Diabetes, 1998, 47 : 125-127.
[70]Lee YJ, Huang FY, Lo FS, et al. Association of CTLA 4 gene A/ G polymorphism with type 1 diabetes in Chinese children[J]. Clin Endocrinol, 2000, 52 (2) : 153 -157.
[71]张绍维,丁丽,李鹏飞,等. 1型糖尿病患者及其父母细胞毒性T淋巴细胞相关抗原4基因外显子1A/G49多态性的研究[J].中华医学杂志, 2005, 85 (11) : 788-789.
[72]Vander AB, Vandewalle CL, Schuit FC, et al. CTLA-4 gene polymorphism confers susceptibility to insulin-dependent diabetes mellitus (IDDM) independently from age and from other genetic or immunedisease markers[J]. Clin Exp Immunol, 1997, 110 : 98-103.
[73]Donner H, Braun J, Seidl C, et al. Codon17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto’s thyroiditis and Addison’s disease[J]. J Clin Endocrinol Metab, 1997, 82 : 4130-4132.
[74]Cosentino A, Gambelunghe G. CTLA-4 gene polymorphism contributes to the genetic risk for latent autoimmune diabetes in adults[J]. Ann New York Acad Sci, 2002, 958 : 337-340.
[75]王娈,马瑞欣,王斐,等. CTLA-4基因外显子1A/G49多态性与1型糖尿病的相关性研究[J].中国糖尿病杂志, 2002, 10 (1) : 49-51.
[76]Liang H, Yagi K, Kobayashi J, et al. Association between CTLA-4 + 49 A/G polymorphism and type 1B diabetes in Japanese population[J]. Endocrine, 2004, 25 (1) : 105-109.
[77]向斌,周智广,杨琳,等. CTLA-4基因外显子1 A/ G49多态性与特发性1型糖尿病的相关性研究[J].医学临床研究, 2006, 23 (10) : 1521-1523.
[78]顾雁,李琳,于晓静,等. CTLA-4基因第1外显子49位点基因多态性与2型糖尿病的相关性研究[J].中国医师进修杂志, 2007, 30 (6) : 14-16.
[79]Lee YJ, Lo FS, Shu SG, et al. The Promoter region of the CTLA-4 gene is assoeiated with type 1diabetes mellitus[J].J Pediatr Endoerinol Metab, 2001, 14(4) : 383-388.
[80]杨建军,张毓洪,霍正浩,等. CTLA - 4基因的多态性与宁夏儿童1型糖尿病的相关性研究[J].宁夏医学院学报, 2006, 28 (5) : 374-379.
[81]Vaidya B, Pearce SH, Charlton S, et al. An association between the CTLA-4 exon 1 polymorphism and early rheumatoid arthritis with autoimmune endocrinopathies[J]. Rheumatol, 2002, 41 : 180-183.
[82]Lee CS, Lee YJ, Liu HF, et al. Association of CTLA-4 gene A-G polymorphism with rheumatoid arthritis in Chinese[J]. Clin Rheumatol, 2003, 22 : 221-224.
[83]Morgan AW, Subramanian D, Keyte VH, et al. Linkage disequilibrium at the Fe gamma receptor locus and association of an FcGR haplotype with rheumatoid arthritis (RA) in two distinct ethnic groups[J] .Rheumatol, 2001, 40 (suppl): 585-589.
[84]Seidl C, Donner H, Fischer B, et al. CTLA4 codon 17 dimorphism in patients with rheumatoidarthritis[J]. Tissue Antigens, 1998, 51 : 62-66.
[85]Gonzalez-Escribano MF, Rodriguez R, Valenzuela A, et al. CTLA-4 polymorphisms in Spanish patients with rheumatoid arthritis[J].Tissue Antigens, 1999, 53 : 296-300.
[86]Liu MF, Wang CR, Chen PC, et al. CTLA-4 gene polymorphism in promoter and exon2 1 regions is not associated with Chinese patients with rheumatoid arthritis[J]. Clin Rheumatol, 2004, 23 (2) : 180-181.
[87]Barton A, Myerscough A, John S, et al. A single nucleotide polymorphism in exon 1 of cytotoxic T-lymphocyte-associated-4(CTLA-4) is not associated with rheumatoid arthritis[J]. Rheumatol, 2000, 39 : 63-66.
[88]Matsushita M, Tsuchiya N, Shiota M, et al. Lack of a strong association of CTLA-4 exon 1 polymorphism with the susceptibility to rheumatoid arthritis and systemic lupus erythematosus in Japanese: an association study using a novel variation screening method[J]. Tissue Antigens, 1999, 54 : 578-584.
[89]蔡雷.中国汉族人群中CTLA-4基因与类风湿性关节炎的相关性研究:[博士论文],上海:复旦大学,2005.
[90]冯照雷. CTLA-4基因外显子IA/G49多态性与SLE和RA易感相关性及sCTLA-4在SLE和RA病人的表达:[硕士论文],山东:山东大学,2005.
[91]周艳,肖林生.中国人群CTLA-4基因多态性与系统性红斑狼疮及类风湿性关节炎的相关性研究[J].免疫学杂志, 2007, 23 (3) : 349-350.
[2] Lee GM, Kline J, King MC. Clustering of fetal loss in families [J]. Am J Epidemiol, 1991, 134 : 769-770.
[3]赵爱民,林其德. Th1/Th2型细胞因子与复发性流产相关[J].上海第二医科大学学报, 2000, 20 : 16-18.
[4] Kewin JH, Lim MB. The role of T 2 helper cytokines in human reproduction [J]. Fertil Steril, 2000 (1) : 136-142.
[5] Kamali-Sarvestani E, Zolghadri J, Gharesi-Fard B, et al. Cytokine gene polymorphisms and susceptibility to recurrent pregnancy loss in Iranian women [J]. J Reprod Immunol, 2005, 65 (2) : 171-178.
[6] Hill JA, Polgar k, Anderson DJ. T helper 1 immunity to trophoblasts in women with recurrent spontaneous abortion [J]. JAMA, 1995, 273: 1993-1996.
[7]于爱莲,张丰雪,杨春贵,等.反复自然流产与白细胞介素关系的研究[J].中国实用妇科与产科杂志, 2000, 16 (4) : 227-229.
[8]李昭荣,韩香,吕海侠,等. Thl/Th2型细胞因子与反复自然流产的关系[J].西安交通大学学报, 2006, 24 (3) : 255-257.
[9] Daher S, Denardi K, Blotta M, et al. Cytokines in recurrent pregnancy loss[J]. J Reprod Immunol, 2004, 62 : 151-157.
[10]刘梅,龚伊,张先君.单核苷酸多态性在原因不明习惯性流产中的研究进展[J].生殖与避孕, 2007, 27 (2) : 128-132.
[11]唐玉兰,郑金瓯. CD28:CTLA-4/B7及CD40/CD40L与多发性硬化[J].医学综述, 2008, 14 (2) : 164-166.
[12]Krummel MF, Allison JP. CTLA-4 engagement inhibits IL-2 accumulation and cell cycle progression upon activation of resting T cells[J]. J Exp Med, 1996, 183 : 2533-2540.
[13]David MS, Claire NM, Zheng Y. What′s the difference between CD80 and CD86[J]. Trends Immunol, 2003, 24 (6) : 313-318.
[14]Walunas TL, Lenschow DJ, Bakker CY. CTLA-4 can function as a negative regulator of T cell activation[J]. Immunity, 1994, 1 : 405-413.
[15]Ligers A, Teleshova N, Masterman T, et al. CTLA-4 gene expression is influenced by promoter and exon 1 polymorphisms[J]. Genes Immun, 2001, 2 (3) : 145-152.
[16]Kouki T, Sawai Y , Gardine CA, et al. CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves’disease[J]. J Immunol, 2000, 165 (11) : 6606-6611.
[17]毛海婷,王雄彪,张玲,等. CTLA-4在重症肌无力患者中的表达及其多态性导致的无效转录研究[J].中华微生物学和免疫学杂志, 2005, 25 (4) : 257-262.
[18]Qian F, Kruse U, Lichter P, et al. Chromosomal localization of the four genes (NF1A, B, C and X) for the human transcription factor nuclear factor 1 by FISH[J]. Genomics, 1995, 28 : 66-73.
[19]Jones KA, Kadonaga JT, Rosenfeld PJ, et al. A cellular DNA-binding protein that activates eukaryotic transcription and DNA replication[J]. Cell, 1987, 48 : 79-89.
[20]Zahnow CA. CCAAT/enhancer binding proteins in normal mammary development and breast cancer[J]. Breast Cancer Res, 2002, 4 : 113-121.
[21]Kaufman KA, Bowen JA, Tsai AF, et al. The CTLA-4 gene is expressed in placental fibroblasts[J]. Mol Hum Reprod, 1999, 5 : 84-87.
[22]Tsai AF, Kaufman KA, Walker MA, et al. Transmission disequilibrium of maternally-inherited CTLA-4 microsatellite alleles in idiopathic recurrent miscarriage[J]. J Reprod Immunol, 1998, 40 : 147-157.
[23]Harper K, Balzano C, Rouvier E, et al. CTLA-4 and CD28 activated lymphocyte molecules are closely related in both mouse and human as to sequency, message expression, gene structure, and chromosomal location[J].J Immunol, 1991, 147 : 1037-1044.
[24]汪希鹏,林其德,马政文,等.原因不明复发性流产患者细胞毒性T淋巴细胞抗原4基因第一外显子49位点A/G基因多态性研究[J].中华妇产科杂志, 2006, 1 (3) :155-159.
[25]Ueda H, Howson JM , Esposito L, et al. Association of the T-cell regulatory gene CTLA-4 with susceptibility to autoimmune disease[J]. Nature, 2003, 423 : 506-511.
[26]Yang KD, Liu CA, Chang JC, et al. Polymorphism of the immune-braking gene CTLA-4 (+49) involved in gender discrepancy of serum total IgE levels and allergic diseases[J]. Clin Exp Allergy, 2004, 34 : 32-37.
[27]Hudson LL, Rocca K, Song YW, et al. CTLA-4 gene polymorphisms in systemic lupus erythematosus: a highlysignificant association with a determinant in the promoter region[J]. Hum Genet, 2002, 111 : 452-455.
[28]Deichman K, Heinzmann A, Bruggenolte E. An Mse I RFLP in the human CTLA -4 promoter[J]. Biochem Biophys Res Commun, 1996, 225 : 817-818.
[29]范列英,朱烨,仲人前,等.中国人自身免疫性肝病相关性CTLA-4基因多态性研究[J].中华医学遗传学杂志, 2004, 21 (5) : 440-443.
[30]Zhang W, Collins A, Maniatis N, et al. Properties of linkage disequilibrium (LD) maps[J]. Proc Natl Acad Sci USA, 2002, 99 : 17004-17007.
[31]Shi YY, He L. SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci[J].Cell Res, 2005, 15 (2) : 97-98.
[32]Diejomaoh MF, Al-Azemi M, Jirous J, et al. The atiology and pattern of recurrent pregnancy loss[J]. J Obstet Gynaeco, 2002, 22 : 62-67.
[33]Mellor AL, Munn DH. Immunology at the maternal-fetal interface: lessons for T cell tolerance and suppression[J]. Annu Rev Immunol, 2000 : 367-391.
[34]Wegmann TG, Lin H, Guilbert L, et al. Bidirectional cytokine interactions in the maternal-fetal relationship: is successful pregnancy a Th2 phenomenon? [J]. Immunol Today, 1993, 14 : 353-356.
[35]邱丽华.原因不明复发性流产与Th1/Th2型细胞因子[J].国外医学·计划生育分册, 2000, 19 (1) : 20-23.
[36]Dariavach P, Mattei M.G, Lefrane GP, et al. Human Ig superfamily CTLA4 gene: Chromosomal localization and identity of Protein sequence between murine and human CTLA4 cytoplasmicdomains[J]. Eur J Immunogenet, 1988, 18 : 1901-1905.
[37]姜博仁,张胜兰. CTLA-4基因多态性与格雷夫斯病相关性的研究进展[J].实用医药杂志, 2004, 21 (4) : 375-376.
[38]Chen W, Jin W, Wahl SM. Engagement of cytotoxic T lymphocyte-associated antigen 4(CTLA-4) induces transforming growth factor beta (TGF-beta) production bymurine CD4(+) T cells[J]. J Exp Med, 1998, 188 : 1849-1857.
[39]Blair PJ, Riley JL, Levine BL, et al. Cutting edge: CTLA-4 ligation delivers a unique signals to resting human CD4 T cells that inhibits interleukin-2 secretion but allows Bcl-xL induction[J]. J Immunol, 1998, 160 : 12-15.
[40]Dias SDR, Rudd CE. CTLA-4 blockade of antigen-induced cell death[J]. Blood, 2001, 97 : 1134-1137
[41]Pritchard JK, Przeworski M. Linkage disequilibrium in humans: models and data [J]. Am J Hum Genet, 2001, 69 : 1-14.
[42]Ardlie KG, Kruglyak L, Seielstad M. Patterns of linkage disequilibrium in the human genome[J]. Nat Rev Genet, 2002, 3 : 299-309.
[1]周峰,夏冰,郭秋莎,等.细胞毒T淋巴细胞相关抗原4基因多态性与溃疡性结肠炎[J].中华内科杂志, 2006, 45 (6) : 478-481.
[2]徐安平,尹培达,苏晓燕.中国人CTLA-4基因-1722位点多态性与系统性红斑狼疮的相关性[J].第一军医大学学报, 2004, 24 (10) : 1107-1112.
[3]李恒,傅振坤,王丽虹,等.细胞毒T淋巴细胞相关抗原4基因多态性与乳腺癌易感性的关联研究[J].细胞与分子免疫学杂志, 2008, 24 (3) : 282-284.
[4]高淑娜,姜综敏,孟炜,等.细胞毒性T淋巴细胞相关抗原-4基因启动子区多态性与系统性红斑狼疮的遗传易感性[J].复旦学报(医学版), 2007, 34 (2) : 193-197.
[5]徐安平,尹培达,苏晓燕.系统性红斑狼疮患者CTLA-4基因-1661位点多态性研究[J].福建医科大学学报, 2004, 38 (4) : 404-407.
[6]周树录,叶任高,张虹,等. CTLA-4基因启动子区-318位点基因多态性与SLE的相关性研究[J].新医学, 2003, 34 (5) : 291-293.
[7]钱力.小儿支气管哮喘与细胞毒T淋巴细胞相关抗原4(CTLA-4)基因多态性的相关性研究:[学位论文],吉林:吉林大学,2004
[8] Rasmussen HB, Kelly MA, Francis DA, et al. CTLA4 in multiple sclerosis. Lack of genetic association in a European Caucasian population but evidence of interaction with HLA-DR2 among Shanghai Chinese[J]. J Neurol Sci, 2001, 184 : 143-147.
[9]唐果. CTLA-4基因单核苷酸多态性与白癜风相关性研究:[学位论文],西安:第四军医大学,2007
[10]杜亦陶,张勤,李梅,等. Graves病白细胞减少与CTLA-4基因多态性的相关性[J].天津医药, 2005, 33 (10) : 624-626.
[11]Wu J, Tang J.L, Wu S.J, et al. Functional polymorphism of CTLA-4 and ICOS genes in allogeneic hematopoietic stem cell transplantation[J]. Clinica Chimica Acta, 2009, 403 : 229-233.
[12]Lee C-S, Lee Y-J, Liu H-F, et al. Association of CTLA4 gene A-G polymorphism with rheumatoid arthritis in Chinese[J].Clin Rheumatol, 2003, 22 : 221-224.
[13]Liu M.F, Wang C.R, Lin L.C, et al. CTLA-4 gene polymorphism in promoter and exon-1 regions in Chinese patients with systemic lupus erythematosus[J]. Lupus, 2001, 10 : 647-649.
[14]王娈,于宏伟,闫胜利,等.细胞毒性T淋巴细胞相关抗原4基因多态性与中国汉族人1型糖尿病、自身免疫性甲状腺病的相关性研究[J].中华内分泌代谢杂志, 2001, 17 (4) : 228-231.
[15]张京玲. CTLA-4第一外显子49位点A/G多态性与Graves病药物治疗停药后复发的相关性研究:[学位论文],青岛:青岛大学,2005
[16]冯照雷. CTLA-4基因外显子1A/G49多态性与SLE和RA易感相关性及sCTLA-4在SLE和RA病人的表达:[学位论文],山东:山东大学,2005
[17]向斌,周智广,杨琳,等. CTLA-4基因外显子1 A/ G49多态性与特发性1型糖尿病的相关性研究[J].医学临床研究, 2006, 23 (10) : 1521-1523.
[18]Yung E, Cheng P.S, Fok T.F, et al. CTLA-4 gene A–G polymorphism and childhood Graves’disease[J]. Clin Endocrinol, 2002, 56 : 649-653.
[19]Han S.Z, Zhang S.H, Zhang W.Y, et al. CTLA4 Polymorphisms and Ophthalmopathy in Graves’Diseas Patients:Association Study and Meta-Analysis[J]. Hum Immunol, 2006, 67 : 618-626.
[20]Osei-Hyiaman D, Hou L.F, Ren Z.Y, et al. Association of a Novel Point Mutation (C159G) of the CTLA4 Gene With Type 1 Diabetes in West Africans but not in Chinese[J]. Diabetes, 2001, 50 : 2169-2171.
[21]彭学标,朱晓亮.系统性红斑狼疮与CTLA-4基因多态性的相关性研究[J].免疫学杂志, 2001, 17 (5) : 399-401.
[22]余绮玲,陈定宇,肖正华,等.广东人汉族群CTLA-4基因外显子1多态性与Graves病的相关性[J].解剖学研究, 2006, 28 (4) : 278-281.
[23]胡晓蕾,代亚美. CTLA-4基因外显子1的49位点A/G多态性与吉兰-巴林综合征的关联研究[J].黑龙江医学, 2007, 31 (12) : 886-888.
[24]刘巍,李为民,李悦,等. CTLA- 4基因多态性与特发性扩张型心肌病的相关性[J].中国免疫学杂志, 2007, 23 (1) : 66-69.
[25]刘英,刘巍,李为民,等.特发性扩张型心肌病CT LA- 4基因外显子A /G多态性与sCTLA4及Th1 /Th2偏离的相关性研究[J].中华医学杂志, 2005, 85 (45) : 3221-3224.
[26]张绍维,丁丽,李鹏飞,等. 1型糖尿病患者及其父母细胞毒性T淋巴细胞相关抗原4基因外显子1A/G49多态性的研究[J].中国医学杂志, 2005, 85 (11) : 788-789.
[27]顾雁. CTLA-4基因外显子1的49位点基因多态性与T2DM:[学位论文],大连:大连医科大学,2006
[28]张亚飞,解俊侠,郜玉峰,等.慢性HBV感染者外周血单个核细胞CTLA-4基因多态性与病情转归的关联研究[J].实用肝脏病杂志, 2008, 11 (5) : 297-299.
[29]汪希鹏,林其德,马政文,等.原因不明复发性流产患者细胞毒性T淋巴细胞抗原4基因第一外显子49位点A/G基因多态性研究[J].中华妇产科杂志, 2006, 41 (3) : 155-158.
[30]Cai L, Zhang DQ, Shi YQ, et al. Association of the CTLA-4 gene with rheumatoid arthritis in Chinese Han population[J]. Eur J Hum Genet, 2005, 13 : 823-828.
[31]Hudson L.L, Rocca K, Song Y.W, et al. CTLA-4 gene polymorphisms in systemic lupus erythematosus: a highly significant association with a determinant in the promoter region[J]. Hum Genet, 2002, 111 : 452-455.
[32]Erfani N, Razmkhah M, Talei A.R, et al. Cytotoxic T lymphocyte antigen-4 promoter variants in breast cancer[J]. Cancer Genet Cytogenet, 2006, 165 : 114-120.
[33]Baniasadi V, Narain N, Goswami R, et al. Promoter region -318 C/ T and -1661 A/G CTLA-4 single nucleotide polymorphisms and type 1 diabetes in North Indians[J]. J Compilat, 2006, 67 : 383-389.
[34]Parks CG, Hudson LL, Cooper GS, et al. CTLA-4 gene polymorphisms and systemic lupus erythematosus in a population-based study of whites and African-Americans in the southeastern United States[J]. Lupus, 2004, 13 : 784-791.
[35]Bouqbis L, Izaabel H, Akhayat O, et al. Association of the CTLA4 promoter region (-1661G allele) with type 1 diabetes in the South Moroccan population[J]. Genes and Immunity, 2003, 4 : 132-137.
[36]Aguilar F, Torres B, Sa′nchez-Roma′n J, et al. CTLA4 polymorphism in spanish patients with systemic lupus erythematosus[J]. Hum Immunol, 2003, 64 : 936-940.
[37]Barton A, Jury F, Eyre S, et al. Haplotype analysis in simplex families and novel analytic approaches ina case–control cohort reveal no Evidence of Association of the CTLA-4 Gene With Rheumatoid Arthritis[J]. Arthritis & Rheumatism, 2004, 50 : 748-752.
[38]Chistiakov D.A, Savost’anov K.V, Turakulov R.I, et al. Genetic analysis and functional evaluation of the C/T(-318) and A/G(-1661) polymorphisms of the CTLA-4 gene in patients affected with Graves’disease[J]. Clin Immunol, 2006, 118 : 233-242.
[39]Esteghamati A, Khalilzadeh O, Mobarra Z, et al. Association of CTLA-4 gene polymorphism with Graves' disease and ophthalmopathy in Iranian patients[J]. Eur J Internal Med, 2009, 20 : 424-428.
[40]Tsunemi Y, Saeki H, Kishimoto M, et al. Cytotoxic T lymphocyte antigen-4 gene (CTLA4) polymorphisms in Japanese patients with psoriasis vulgaris[J]. J Dermatol Sci, 2003, 32 : 163-165.
[41]Machida H, Tsukamoto K, Wen C.Y, et al. Association of polymorphic alleles of CTLA4 with inflammatory bowel disease in the Japanese[J]. World J Gastroenterol, 2005, 11 (27) : 4188-4193.
[42]Fukazawa T, Kikuchi S, Miyagishi R, et al. CTLA-4 gene polymorphism is not associated with conventional multiple sclerosis in Japanese[J]. J Neuroimmunol, 2005, 159 : 225-229.
[43]Ahmed S, Ihara K, Kanemitsu S, et al. Association of CTLA-4 but not CD28 gene polymorphisms with systemic lupus erythematosus in the Japanese population [J]. Rheumatol, 2001, 40 : 662-667.
[44]Sohn M.H, MD, Kim S.H, Song T.W, et al. Cytotoxic T lymphocyte-associated antigen-4 gene polymorphisms confer susceptibility to atopic asthma in Korean children[J]. Pediat Pulmonol, 2007, 42 : 542-547.
[45]Kacem H.H, Bellassoued M, Bougacha-Elleuch N, et al. CTLA-4 gene polymorphisms in Tunisian patients with Graves’Disease[J]. Clin Immunol, 2001, 101 : 361-365.
[46]Gorgi Y, Sfar I, Abdallah T.B, et al. CTLA-4 exon 1 (+49) and promoter (-318) gene polymorphisms in kidney transplantation[J]. Transplantation Proceedings, 2006, 38 : 2303-2305.
[47]Kantarci O.H, Hebrink D.D, Achenbach S.J, et al. CTLA4 is associated with susceptibility to multiple sclerosis[J]. J Neuroimmunol, 2003, 134 : 133-141.
[48]Balic I, Angel B, Codner E, et al. Association of CTLA-4 polymorphisms and clinical-immunologic characteristics at onset of type 1 diabetes mellitus in children[J]. Hum Immunol, 2009, 70 : 116-120.
[49]Malferrari G, Stella A, Monferini E, et al. CTLA4 and multiple sclerosis in the Italian population[J]. Exp Mol Pathol, 2005, 78 : 55-57.
[50]Monne M, Piras G, Palmas A, et al. Cytotoxic T-lymphocyte antigen-4 (CTLA-4) gene polymorphism and susceptibility to Non-Hodgkin’s lymphoma[J]. Am J Hematol, 2004, 76 : 14-18.
[51]Sahin M, Erdogan M.F, Erdogan G. Cytotoxic T lymphocyte-associated molecule-4 polymorphisms in Turkish Graves’disease patients and association with probability of remission after antithyroid therapy[J]. Eur J Internal Med, 2005, 16 : 352-355.
[52]Veena T, Crusius J.B.A, Winsen L, et al. CTLA-4 and CD28 gene polymorphisms in susceptibility, clinical course and progression of multiple sclerosis[J]. J Neuroimmunol, 2003, 140 : 188-193
[53]Xia B, Crusius J.B.A, Wu J, et al. CTLA4 gene polymorphisms in dutch and chinese patients with inflammatory bowel disease[J]. Scand J Gastroenterol, 2002, 11: 1296-1270.
[54]Wang XB, Kakoulidou M, Qiu Q, et al. CDS1 and promoter single nucleotide polymorphisms of the CTLA-4 gene in human myasthenia gravis[J]. Genes and Immunity, 2002, 3 : 46-49.
[55]Ligers A, Xu C, Saarinen S, et al. The CTLA-4 gene is associated with multiple sclerosis[J]. J Neuroimmunol, 1999, 97 : 182-190.
[56]Heggarty S, Suppiah V, Silversides J, et al. CTLA4 gene polymorphisms and multiple sclerosis in Northern Ireland[J]. J Neuroimmunol, 2007, 187 : 187-191
[57]Vaidya B, Oakes E.J.C., Imrie H, et al. CTLA4 gene and Graves’disease: association of Graves’disease with the CTLA4 exon 1 and intron 1 polymorphisms, but not with the promoter polymorphism[J]. Clin Endocrinol, 2003, 58 : 732-735.
[58]Suwalska K, Pawlak E, Karabon L, et al. Association studies of CTLA-4, CD28, and ICOS gene polymorphisms with B-cell chronic lymphocytic leukemia in the Polish population[J]. Hum Immunol, 2008, 69 : 193-201.
[59]Rasmussen H.B, Kelly M.A, Francis D.A, et al. CTLA4 in multiple sclerosis. Lack of genetic association in a European Caucasian population but evidence of interaction with HLA-DR2 among Shanghai Chinese[J]. J Neurol Sci, 2001, 184 : 143-147.
[60]Harbo H.F, Celius E.G, Vartdal F, et al. CTLA4 promoter and exon 1 dimorphisms in multiple sclerosis[J]. Tissue Antigens, 1999, 53 : 106-110.
[61]Douroudis K, Prans E, Uibo R. CTLA-4 promoter polymorphisms are associated with latent autoimmune diabetes in adults[J]. Hum Immunol, 2009, 70 : 921-924.
[62]Braun J, Donner H, Siegmund T, et al. CTLA4 promoter variants in patients with Graves' disease and Hashimoto's thyroiditis[J]. Tissue Antigens, 1998, 51 : 563-566.
[63]Awata T, Kurihara S, Iitaka M, et al. Association of CTLA-4 gene A-G polymorphism (IDDM12 locus) with acute-onset and insulin-depleted IDDM as well as autoimmune thyroid disease (Graves’disease and Hashimoto’s thyroiditis) in the Japanese population[J]. Diabetes, 1998, 47: 128-129.
[64]Abe T, Takino H, Yamasaki H, et al. CTLA4 gene polymorphism correlates with the mode of onset and presence of ICA512 Ab in Japanese Type 1 diabetes [J]. Diabetes Res Clin Prac, 1999, 46 : 169-175.
[65]Jun T.Y, Pae C.U, Chae J.H, et al. Polymorphism of CTLA-4 gene at position 49 of exon 1 may be associated with schizophrenia in the Korean population[J]. Psych Res, 2002, 110 : 19-25.
[66]Mojtahedi Z, Omrani G.R, Doroudchi M, et al. CTLA-4 +49 A/G polymorphism is associated with predisposition to type 1 diabetes in Iranians[J]. Diabetes Res Clin Prac, 2005, 68 : 111-116.
[67]Dehaghani A.S, Doroudchi M, Kalantari T, et al. Heterozygosity in CTLA-4 gene and severe preeclampsia[J]. Int J Gynecol Obst, 2005, 88 : 19-24.
[68]Klitz W, Bugawan TL, Panelo A, et al. Association of CTLA-4 variation with type I diabetes in Filipinos[J]. Immunogenet, 2002, 54 : 310-313.
[69]Marron M.P, Raffel L.J, Garchon H.J, et al. Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups[J]. Hum Mol Genet, 1997, 6 : 1275-1282.
[70]Momin S, Flores S, Angel B.B, et al. Interactions between programmed death 1 (PD-1) and cytotoxic T lymphocyte antigen 4 (CTLA-4) gene polymorphisms in type 1 diabetes[J]. Diabetes Res Clin Prac, 2009, 83 : 289-294.
[71]Fern(?)ndez-Mestre M, S(?)nchez K, Balb(?)s O, et al. In?uence of CTLA-4 gene polymorphism in autoimmune and infectious diseases[J]. Hum Immunol, 2009, 70 : 532-535.
[72]Douroudis K, Laine A.P, Heinonen M, et al. Association of CTLA4 but not ICOS polymorphisms with type 1 diabetes in two populations with different disease rates [J]. Hum Immunol, 2009, 70 : 536-539.
[73]Haller K, Kisand K, Nemvalts V, et al. Type 1 diabetes is insulin ?2221 MspI and CTLA-4 +49 A/G polymorphism dependent[J]. Eur J Clin Invest, 2004, 34 : 543-548.
[74]Mora B, Bonamico M, Indovina P, et al. CTLA-4 +49 A/G Dimorphism in Italian Patients With Celiac Disease[J]. Hum Immunol, 2003, 64 : 297-301.
[75]Barton A, Myerscough A, John S, et al. A single nucleotide polymorphism in exon 1 of cytotoxic T-lymphocyte-associated-4 (CTLA-4) is not associated with rheumatoid arthritis[J]. Rheumatol, 2000, 39 : 63-66.
[76]Gonzalez-Escribano M.F, Rodriguez R, Valenzuela A, et al. CTLA4 polymorphisms in Spanish patients with rheumatoid arthritis[J]. Tissue Antigens, 1999, 53 : 296-300.
[77]Heggarty S, Suppiah V, Silversides J, et al. CTLA4 gene polymorphisms and multiple sclerosis in Northern Ireland[J]. J Neuroimmunol, 2007, 187 : 187-191.
[78]McCormack R.M, Maxwell A.P, Carson D, et al. Possible association between CTLA4 DNA polymorphisms and early onset type 1 diabetes in a UK population[J]. Genes and Immunity, 2001, 2, 233.
[79]Milicic A, Brown M.A, Wordsworth B.P. Polymorphism in codon 17 of the CTLA-4 gene (+49 A/G) is not associated with susceptibility to rheumatoid arthritis in British Caucasians[J]. Tissue Antigens, 2001, 58 : 50-54.
[80]Wood JP, Pani MA, Bieda K, et al. A recently described polymorphism in the CD28 gene on chromosome 2q33 is no associated with susceptibility to type 1 diabetes[J]. Eur J Immunogenet, 2002, 29 : 347-349.
[81]Seldl C, Donner H, Fischer B, et al. CTLA4 codon 17 dimorphism in patients with rheumatoid arthritis[J]. Tissue Antigens, 1998, 51 : 62-66.
[82]Donner H, Braun J, Seidl C, et al. Codon 17 Polymorphism of the Cytotoxic T Lymphocyte Antigen 4 Gene in Hashimoto’s Thyroiditis and Addison’s Disease[J]. J Clin Endocrinol Metabol, 1997, 82 :4130-4132.
[83]Bilin′ska M, Frydecka I, Noga L, et al. Progression of multiple sclerosis is associated with exon 1 CTLA-4 gene polymorphism[J]. Acta Neurol Scand, 2004, 108 : 67-71.
[84]òuszczek W, Majorczyk E, Nockowski P, et al. Distribution of the CTLA-4 single nucleotide polymorphisms CT60G>A and +49A>G in psoriasis vulgaris patients and control individuals from a Polish Caucasian population[J]. Int J Immunogenet, 2007, 35 : 51-55.
[85]Belzen1 M.J, Mulder C.J.J, Zhernakova A, et al. CTLA4 +49 A/G and CT60 polymorphisms in Dutch coeliac disease patients[J]. Eur J Hum Genet, 2004, 12 : 782-785.
[86]Lorentzen A.R, Celius E.G, Ekstr(?)m P.O, et al. Lack of association with the CD28/CTLA4/ICOS gene region among Norwegian multiple sclerosis patients[J]. J Neuroimmunol, 2005, 166 : 197 -201.
[87] Andreevskii T.V, Sudomoina M.A, Gusev E.I, et al. Polymorphism A/G in Position +49 of CTLA4 Exon 1 in Multiple Sclerosis in Russians[J]. Mol Biol, 2002, 36 : 505-509.
[88]Soylemezoglu O, Peru H, Gonen S, et al. CTLA-4 +49 A/G genotype and HLA-DRB1 polymorphisms in Turkish patients with Henoch–Sch(?)nlein purpura[J]. Pediatr Nephrol, 2008, 23 : 1239-1244.
[89]Din(?)i(?) E, (?)ivkovi(?) M, Stankovi(?) A, et al. Association of polymorphisms in CTLA-4, IL-1ra and IL-1βgenes with multiple sclerosis in Serbian population[J]. J Neuroimmunol, 2006, 177 : 146-150.
[90]NisticòL, Buzzetti R, Pritchard L.E, et al. The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes[J]. Hum Mol Genet, 1996, 5 : 1075-1080.
[91]Djilali-Saiah I, Schmitz J, Harfouch-Hammoud E, et al. CTLA-4 gene polymorphism is associated with predisposition to coeliac disease[J]. Gut, 1998, 43 : 187-189.
[92]Fajardy I, Vambergue A, Stuckens C, et al. CTLA-4 49 A/G dimorphism and type 1 diabetes susceptibility a French case-control study and segregation analysis. Evidence of a maternal effect[J]. Eur J Immunogenet, 2002, 29 : 251-257.
[93]Bicek A, Zaletel K, Gaberscek S, et al. 49A/G and CT60 polymorphisms of the cytotoxic T-lymphocyte-associated antigen 4 gene associated with autoimmune thyroid disease[J]. Hum Immunol, 2009, 70 : 820-824.
[94]Pavkovic M, Georgievski B, Cevreska L, et al. CTLA-4 Exon 1 Polymorphism in Patients With Autoimmune Blood Disorders[J]. Am J Hematol, 2003, 72 : 147-149.
[95]Cinek O, Drevinek P, Sumnik Z, et al. The CTLA4 +49 A/G dimorphism is not associated with type 1 diabetes in Czech children[J]. Eur J Immunogenet, 2002, 29 : 219-222.
[96]Magyari L, FaragóB, Bene J, et al. No association of the cytotoxic T-lymphocyte associated gene CTLA4 +49A/G polymorphisms with Crohn’s disease and ulcerative colitis in Hungarian population samples[J]. World J Gastroenterol, 2007, 13 (15) : 2205-2208.
[97]Zalloua PA, Abchee A, Shbaklo H, et al. Patients with early onset of type 1 diabetes have significantly higher GG genotype at position 49 of the CTLA4 gene[J]. Hum Immunol, 2004, 65 : 719-724.
[98]Kacem H.H, Kaddour N, Adyel F.Z, et al. HLA-DQB1 CAR1/CAR2, TNFa IR2/IR4 and CTLA-4 polymorphisms in Tunisian patients with rheumatoid arthritis and Sj?gren’s syndrome[J]. Rheumatology, 2001, 40 : 1370-1374.
[99]Osei-Hyiaman D, Hou L, Zhiyin R, et al. Association of a Novel Point Mutation (C159G) of the CTLA4 Gene With Type 1 Diabetes in West Africans but not in Chinese[J]. Diabetes, 2001, 50 : 2169-2171.
[100]Wray B.N, Stankovich J, Whittock L, et al. CTLA-4 and multiple sclerosis: The A49G single nucleotide polymorphism shows no association with multiple sclerosis in a Southern Australian population [J]. J Neuroimmunol, 2008, 196 : 139-142.
[101]Shastry BS. SNP alleles in human disease and evolution[J]. J Hum Genet, 2002, 47: 561-566.
[102]Gray IC, Campbell DA, Spurr NK. Single nucleotide polymorphisms as tools in human genetics[J]. Hum Mol Genet, 2000, 9 (16) : 2403-2408.
[103]何云刚,金力,黄薇.单核苷酸多态性与连锁不平衡研究进展[J].基础医学与临床, 2004, 24 (5) : 487-490
[1] Abbas AK, Lohr J, Knoechel B, et al. T cell tolerance and autoimmunity[J]. Autoimmun Rev, 2004, 3 (728) : 471-475.
[2] Janeway CA, Bottomly K. Signals and signs for lymphocyte responses[J]. Cell, 1994, 76 (2) : 275-285.
[3]范祖森.共刺激信号与免疫耐受[J].国外医学·免疫学分册, 1997, 20 (5) : 244-247.
[4]汤复根,吴俊英.协同刺激分子B7-CD28/CTLA-4与自身免疫病[J].国际内科学杂志, 2007, 34 (4) : 232-235.
[5] Walunas TL, Lenschow DJ, Bakker CY. CTLA-4 can function as a negative regulator of T cell activation[J]. Immunity, 1994, 1 : 405-413.
[6] Krummel MF, Allison JP. CTLA-4 engagement inhibits IL-2 accumulation and cell cycle progression upon activation of resting T cells[J]. J Exp Med, 1996, 183 : 2533-2540.
[7] Linsley PS, Bradshaw J, Greene J, et al. Intracellular trafficking of CTLA-4 and focal localization towards sites of TCR engagement[J]. Immunity, 1996, 4 : 535-543.
[8] Balzano C, Buonavista N, Rouvier E, et al. CTLA-4 and CD28: similar proteins, neighbouring genes[J]. Int J Cancer, Suppl, 1992, 7 : 28-32.
[9] Salomon B, Bluestone JA. Complexities of CD28/B7: CTLA-4 costimulatory pathways in autoimmunity and transplantation[J]. Annu Rev Immunol, 2001, 19 (1) : 225-252.
[10]刘雅峰,郑克立.协同刺激分子B7:CD28/CTLA-4的研究进展[J].国外医学泌尿系统分册, 2004, 24 (6) : 732-735.
[11]Ogawa S, Nitta K, Hara Y, et al. CD28 knockout mice as a useful clue to examine the pathogenesis of chronic graft-versus-host reaction[J]. Kidney Internatial, 2000, 58 (5) : 2215-2220.
[12]June CH, Ledbetter JA, Linsley PS, et al. Role of the CD28 receptor in T-cell activation[J]. Immunol Today, 1990, 11 (6) : 211-216.
[13]Sharpe AH, Freeman GJ. The B7-CD28 superfamily[J]. Nat Rev Immunol, 2002, 2 (2) : 116-126.
[14]Chen W, Jin W, Wahl SM. Engagement of cytotoxic T lymphocyte-associated antigen 4(CTLA-4)induces transforming growth factor beta (TGF-beta) production bymurine CD4(+) T cells[J]. J Exp Med, 1998, 188 : 1849-1857.
[15]Dias SDR, Rudd CE. CTLA-4 blockade of antigen-induced cell death[J]. Blood, 2001, 97 : 1134-1137.
[16]Scheipers P, Reiser H. Fas-independent death of activated CD4(+) T lymphocyte induced by CTLA-4 crossing[J]. Proc Natl Acad Sci USA, 1998, 95 : 10083-10088.
[17]Alegre ML, Frauwirth KA, Thompson CB. T-cell regulation by CD28 and CTLA-4[J]. Nat Rev Immunol, 2001, 1 (3) : 220-228.
[18]姜博仁,张胜兰. CTLA-4基因多态性与格雷夫斯病相关性的研究进展[J].实用医药杂志, 2004, 21 (4) : 375-376.
[19]Ligers A, Teleshova N, Masterman T, et al. CTLA-4 gene expression is influenced by promoter and exon 1 polymorphisms[J]. Genes Immun, 2001, 2 (3) : 145-152.
[20]Kouki T, Sawai Y , Gardine CA, et al. CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves’disease[J]. J Immunol, 2000, 165 (11) : 6606-6611.
[21]毛海婷,王雄彪,张玲等.CTLA-4在重症肌无力患者中的表达及其多态性导致的无效转录研究[J].中华微生物学和免疫学杂志, 2005, 25 (4) : 257-262.
[22]Qian F, Kruse U, Lichter P, et al. Chromosomal localization of the four genes (NF1A, B, C and X) for the human transcription factor nuclear factor 1 by FISH[J]. Genomics, 1995, 28 : 66-73.
[23]Jones KA, Kadonaga JT, Rosenfeld PJ, et al. A cellular DNA-binding protein that activates eukaryotic transcription and DNA replication[J]. Cell, 1987, 48 : 79-89.
[24]Zahnow CA. CCAAT/enhancer binding proteins in normal mammary development and breast cancer[J]. Breast Cancer Res, 2002, 4 : 113-121.
[25]Zaletel K, Krhin B, Gaberscek S, et al. The influence of the exon 1 polymorphism of the cytotoxic T lymphocyte antigen 4 gene on thyroid antibody production in patients with newly diagnosed Graves′disease[J].Thyroid, 2002, 12 : 373-376.
[26]Zaletel K, Krhin B, Gaberscek S, et al. Thyroid autoantibody production is influenced by exon 1 andpromoter CTLA-4 polymorphisms in patients with Hashimoto′s thyroiditis[J]. Int J Immunogenet, 2006, 33 : 87-91.
[27]Xu Y, Graves PN, Tomer Y, et al. CTLA-4 and autoimmune thyroid disease: lack of influence of the A49G signal peptide polymorphism on functional recombinant human CTLA-4[J]. Cell Immunol, 2002, 215 : 133-140.
[28]Chistiakov DA, Savost’anov KV, Turakulov RI, et al. Genetic analysis and functional evaluation of the C/T (-318) and A/G (-1661) polymorphisms of the CTLA-4 gene in patients affected with Graves′disease[J]. Clin Immunol, 2006, 118 : 233-242.
[29]Wang XB, Zhao X, Giscombe R, et al. A CTLA-4 gene polymorphism atposition-318 in the promoter region affects the expression of protein[J]. Genes Immun, 2002, 3 : 233-234.
[30]Kaufman KA, Bowen JA, Tsai AF, et al. The CTLA-4 gene is expressed in placental fibroblasts[J]. Mol Hum Reprod, 1999, 5: 84-87.
[31]Tsai AF, Kaufman KA, Walker MA, et al. Transmission disequilibrium of maternally-inherited CTLA-4 microsatellite alleles in idiopathic recurrent miscarriage[J]. J Reprod Immunol, 1998, 40: 147-157.
[32]Harper K, Balzano C, Rouvier E, et al. CTLA-4 and CD28 activated lymphocyte molecules are closely related in both mouse and human as to sequency, message expression, gene structure, and chromosomal location[J]. J Immunol, 1991, 147 : 1037-1044.
[33]汪希鹏,林其德,马政文,等.原因不明复发性流产患者细胞毒性T淋巴细胞抗原4基因第一外显子49位点A/G基因多态性研究[J].中华妇产科杂志, 2006, 1 (3) :155-159.
[34]Adams DD, Knight JG. Principles of autoimmune disease: pathogenesis, genetics and specific immunotherapy [J]. J Clin Lab Immunol, 2003, 52 : 1-22.
[35]Knudsen N, Jorgensen T, Rasmussen S, et al. The prevalence of thyroid disfunction in a population with borderline iodine deficiency[J]. Clin Endocrinol, 1999, 51 : 361-367.
[36]Yanagawa T, Hidaka Y, Guimaraes V, et al.CTLA-4 gene polymorphism associated with Graves’disease in a Caucasian population[J]. J Clin Endocrinol Metab, 1995, 80 : 41-45.
[37]蒋玲,王桂兰,董建军,等.细胞毒性T淋巴细胞相关抗原-4基因多态性与中国汉族人Graves′
病的相关性研究[J].中华内分泌代谢杂志, 1999, 15 (5) : 315-316.
[38]Donner H, Braun J, Seidl C, et al. CTLA-4 alinine-17 confers genetic susceptibility to Grave’s disease and to type 1 diabetes mellitus[J]. J Clin Endocrinol Metab, 1997, 82 : 143-146.
[39]Antonio P, GabrieleG, AndreaG, et al. CT 60 single nucleotide polymorphisms of the cytotoxic T- lymphocyte associated antigen-4 gene region is associated with Graves′Disease in an Italian population[J]. thyroid, 2005, 15 (3) : 232-238.
[40]王巧宏,任跃忠.中国人CTLA4基因外显子l多态性与Graves病的相关性[J].中华内分泌代谢杂志, 2003, 19 : 297-299.
[41]金迎,贲松涛,膝卫平,等.细胞毒性T琳巴细胞相关杭原-4基因与中国北方汉族Graves病连锁关系研究[J].中华内科杂志, 2002, 41 : 809-812.
[42]姚斌,郑李歌,严晋华,等. CTLA-4基因多态性与中国南方汉族人Graves病的相关性[J].中华内分泌代谢杂志, 2006, 22 (4) : 363-367.
[43]Bednarczuk T, Hiromatsu Y, Fukutani T, et al. Association of cytotoxic T-lymphocyte associated antigen-4 (CTLA-4) gene polymorphism and non-genetic factors with Graves' ophthalmopathy in European and Japanese populations[J]. Eur J Endocrinol, 2003, 148 : 13-18.
[44]Yanagawa T, Taniyama M, Enomoto S, et al. CTLA4 gene polymorphism confers susceptibility to Graves' disease in Japanese[J]. Thyroid, 1997, 7 : 843-846.
[45]Vaidya B, Oakes EJ, Imrie H, et al. CTLA4 gene and Graves' disease: association of Graves' disease with the CTLA4 exon 1 and intron 1 polymorphisms, but not with the promoter polymorphism[J]. Clin Endocrinol, 2003, 58 : 732-735.
[46]Park YJ, Chung HK, Park DJ, et al. Polymorphism in the promoter and exon1of the cytotoxic T lymphocyte antigen-4 gene associated with autoimmune thyroid disease in Koreans[J]. Thyroid, 2000, 10 (6) : 453-459.
[47]Hadj K.H, Bellassoued M, Bougacha-Elleuch N, et al. CTLA-4 gene polymorphisms in Tunisian patients with Graves’disease[J]. J Clin Immunol, 2001, 101 : 361-365.
[48]Yung E, Cheng PS, Fok TF, et al. CTLA-4 gene A-G polymorphismand childhood Graves' disease[J].Clin Endocrinol, 2002, 56 : 649-653.
[49]周文旭,施秉银,王惠芳,等.细胞毒性T淋巴细胞相关抗原-4基因多态性与自身免疫性甲状腺病的相关性[J].西安交通大学学报(医学版), 2003, 24 (2) : 170-173.
[50]张勤,李梅,杜亦陶,等. Graves眼病与细胞毒性T淋巴细胞相关抗原-4基因启动子和外显子1多态性的相关性研究[J].中华内科杂志, 2004, 43 (3) : 214-215.
[51]Braun J, Donner H, Siegmund T, et al. CTLA-4 promoter variants in patients with Graves’disease and Hashimoto’s thyroiditis[J]. Tissue Antigens, 1998, 51 (5) : 563-566.
[52]Heward JM, Allahabadia A, Carr-Smith J, et al. No evidence for allelic association of a human CTLA-4 promoter polymorphism with autoimmune thyroid disease in either population-based case-control or family-based studies [J]. Clin Endocrinol, 1998, 49 (3) : 331-334.
[53]Heward JM, Allahabadia A, Armitage M, et al. The development of Graves’disease and the CTLA-4gene on chromosome2q33[J]. Clin Endocrinol Metab, 1999, 84 (7) : 2398-2401.
[54]Mehrian R, Quismorio FP, Strassmann G, et al. Synergistic effect between IL-10 and bcl-2 genotypes in determining susceptibility to systemic lupus erythematosus[J]. Arthris Rheum, 1998, 41 (2) : 596-602.
[55]Pullmann R Jr, Lukac J, Skerenova M, et al. Cytotoxic T lymphocyte antigen 4 (CTLA-4) dimorphism in patients with systemic lupus erythematosus[J]. Clin Exp Rheumatol, 1999, 17 : 725-729.
[56]Ahmed S, Ihara K, Kanemitsu S, et al. Association of CTLA-4 but not CD28 gene polymorphisms with systemic lupus erythematosus in the Japanese population[J]. Rheumatol, 2001, 40 : 662-667.
[57]彭学标,朱晓亮.系统性红斑狼疮与CTLA-4基因多态性的相关性研究[J].免疫学杂志, 2001, 17 (5) : 399-400.
[58]Parks CG, Hudson LL, Cooper GS, et al. CTLA-4gene polymorphisms and systemic lupus erythematosus in a population-based study of whites and African-Americans in the southeastern United States[J]. Lupus, 2004, 13 (10) : 784-791.
[59]Francisco A, Bele’n T, Julio SR, et al. CTLA4 polymorphism in Spanish Patients with Systemic Lupus Erythematosus[J]. Hum Immunol, 2003, 64: 936-940.
[60]Hudson LL, Rocca K, Song YW, et al. CTLA-4 gene polymorphisms in systemic lupus erythematosus:a highly significant association with a determinant in the promoter region[J]. Hum Genet, 2002, 111 (425) : 452-455.
[61]周树录,叶任高,张虹. CTLA-4基因启动子区-318位点基因多态性与SLE的相关性研究[J].新医学, 2003, 34 (5) : 291-293.
[62]高淑娜,姜综敏,孟炜.细胞毒性T淋巴细胞相关抗原-4基因启动子区多态性与系统性红斑狼疮的遗传易感性[J].复旦学报(医学版), 2007, 34 (2) : 193-197.
[63]Fernandez-Blanco L, Perez-Pampin E, Gomez-Reino JJ, et al. A CTLA-4 polymorphism associated with susceptibility to systemic lupus erthematosus[J].Arthritis Rheum, 2004, 50 (1) : 328-329.
[64]Aguilar F, Torres B, Sanchez-Roman J, et al. CTLA4 polymorphism in Spanish patients with systemic lupus erthematosus [J].Hum Immunol, 2003, 64 (10) : 936-940.
[65]徐安平,尹培达,苏晓燕.中国人CTLA-4基因-1722位点多态性与系统性红斑狼疮的相关性[J].第一军医大学学报, 2004, 24 (10) :1107-1112.
[66]徐安平,尹培达,苏晓燕.系统性红斑狼疮患者CTLA-4基因-1661位点多态性研究[J].福建医科大学学报, 2004, 38 (4) : 404-407.
[67]Mathis D, Vence L, Benoist C, et al. Beta-cell death during progression to diabetes[J]. Nature, 2001, 414 : 792-798.
[68]Nistico L, Buzzetn R, Pntchard LE, et al. The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with type 1 diabetes[J]. Hum Mol Genet, 1996, 5 : 1075-1080.
[69]Djilali-Saiah I, Larger E, Harfouch H, et al. No major role for the CTLA-4 gene in the association of autoimmune thyroid disease with IDDM[J]. Diabetes, 1998, 47 : 125-127.
[70]Lee YJ, Huang FY, Lo FS, et al. Association of CTLA 4 gene A/ G polymorphism with type 1 diabetes in Chinese children[J]. Clin Endocrinol, 2000, 52 (2) : 153 -157.
[71]张绍维,丁丽,李鹏飞,等. 1型糖尿病患者及其父母细胞毒性T淋巴细胞相关抗原4基因外显子1A/G49多态性的研究[J].中华医学杂志, 2005, 85 (11) : 788-789.
[72]Vander AB, Vandewalle CL, Schuit FC, et al. CTLA-4 gene polymorphism confers susceptibility to insulin-dependent diabetes mellitus (IDDM) independently from age and from other genetic or immunedisease markers[J]. Clin Exp Immunol, 1997, 110 : 98-103.
[73]Donner H, Braun J, Seidl C, et al. Codon17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto’s thyroiditis and Addison’s disease[J]. J Clin Endocrinol Metab, 1997, 82 : 4130-4132.
[74]Cosentino A, Gambelunghe G. CTLA-4 gene polymorphism contributes to the genetic risk for latent autoimmune diabetes in adults[J]. Ann New York Acad Sci, 2002, 958 : 337-340.
[75]王娈,马瑞欣,王斐,等. CTLA-4基因外显子1A/G49多态性与1型糖尿病的相关性研究[J].中国糖尿病杂志, 2002, 10 (1) : 49-51.
[76]Liang H, Yagi K, Kobayashi J, et al. Association between CTLA-4 + 49 A/G polymorphism and type 1B diabetes in Japanese population[J]. Endocrine, 2004, 25 (1) : 105-109.
[77]向斌,周智广,杨琳,等. CTLA-4基因外显子1 A/ G49多态性与特发性1型糖尿病的相关性研究[J].医学临床研究, 2006, 23 (10) : 1521-1523.
[78]顾雁,李琳,于晓静,等. CTLA-4基因第1外显子49位点基因多态性与2型糖尿病的相关性研究[J].中国医师进修杂志, 2007, 30 (6) : 14-16.
[79]Lee YJ, Lo FS, Shu SG, et al. The Promoter region of the CTLA-4 gene is assoeiated with type 1diabetes mellitus[J].J Pediatr Endoerinol Metab, 2001, 14(4) : 383-388.
[80]杨建军,张毓洪,霍正浩,等. CTLA - 4基因的多态性与宁夏儿童1型糖尿病的相关性研究[J].宁夏医学院学报, 2006, 28 (5) : 374-379.
[81]Vaidya B, Pearce SH, Charlton S, et al. An association between the CTLA-4 exon 1 polymorphism and early rheumatoid arthritis with autoimmune endocrinopathies[J]. Rheumatol, 2002, 41 : 180-183.
[82]Lee CS, Lee YJ, Liu HF, et al. Association of CTLA-4 gene A-G polymorphism with rheumatoid arthritis in Chinese[J]. Clin Rheumatol, 2003, 22 : 221-224.
[83]Morgan AW, Subramanian D, Keyte VH, et al. Linkage disequilibrium at the Fe gamma receptor locus and association of an FcGR haplotype with rheumatoid arthritis (RA) in two distinct ethnic groups[J] .Rheumatol, 2001, 40 (suppl): 585-589.
[84]Seidl C, Donner H, Fischer B, et al. CTLA4 codon 17 dimorphism in patients with rheumatoidarthritis[J]. Tissue Antigens, 1998, 51 : 62-66.
[85]Gonzalez-Escribano MF, Rodriguez R, Valenzuela A, et al. CTLA-4 polymorphisms in Spanish patients with rheumatoid arthritis[J].Tissue Antigens, 1999, 53 : 296-300.
[86]Liu MF, Wang CR, Chen PC, et al. CTLA-4 gene polymorphism in promoter and exon2 1 regions is not associated with Chinese patients with rheumatoid arthritis[J]. Clin Rheumatol, 2004, 23 (2) : 180-181.
[87]Barton A, Myerscough A, John S, et al. A single nucleotide polymorphism in exon 1 of cytotoxic T-lymphocyte-associated-4(CTLA-4) is not associated with rheumatoid arthritis[J]. Rheumatol, 2000, 39 : 63-66.
[88]Matsushita M, Tsuchiya N, Shiota M, et al. Lack of a strong association of CTLA-4 exon 1 polymorphism with the susceptibility to rheumatoid arthritis and systemic lupus erythematosus in Japanese: an association study using a novel variation screening method[J]. Tissue Antigens, 1999, 54 : 578-584.
[89]蔡雷.中国汉族人群中CTLA-4基因与类风湿性关节炎的相关性研究:[博士论文],上海:复旦大学,2005.
[90]冯照雷. CTLA-4基因外显子IA/G49多态性与SLE和RA易感相关性及sCTLA-4在SLE和RA病人的表达:[硕士论文],山东:山东大学,2005.
[91]周艳,肖林生.中国人群CTLA-4基因多态性与系统性红斑狼疮及类风湿性关节炎的相关性研究[J].免疫学杂志, 2007, 23 (3) : 349-350.