中国广西人群S100B基因rs1051169 G/C和rs9984765 T/C的多态性
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摘要
目的探讨中国广西人群S100B基因rs1051169 G/C和rs9984765 T/C位点遗传多态性的分布特征,并比较其与不同种族和地区人群的分布差异。方法采用单碱基延伸技术(SBE-PCR)和DNA测序法对398例广西体检者的S100B基因rs1051169 G/C和rs9984765 T/C位点进行基因分型,统计学分析其基因多态性的分布特征,并与国际人类基因组单体型图计划(Hap Map)数据库公布的Hap Map-具有北欧和西欧血统的犹他州人群(CEU)、Hap Map-非洲尼日利亚伊巴丹的约鲁巴人(YRI)、Hap Map-日本东京人群(JPT)和Hap Map-中国北京汉族人群(HCB) 4个人群的单核苷酸多态性(SNP)分型数据进行比较。结果广西人群S100B基因rs1051169 G/C位点存在GG、CG和CC基因型,其频率分别为41. 2%、44. 7%和14. 1%,G和C等位基因频率分别为63. 6%和36. 4%。rs9984765 T/C位点存在TT、CT和CC基因型,其频率分别为47. 7%、44. 5%和7. 8%,T和C等位基因频率分别为70. 0%和30. 0%。rs1051169 G/C和rs9984765 T/C位点的基因型和等位基因的分布频率差异均无统计学意义(P>0. 05)。rs1051169 G/C基因型和等位基因频率与Hap Map-CEU、Hap Map-YRI和Hap Map-JPT比较差异均有统计学意义(P<0. 01),与Hap Map-HCB比较,等位基因频率差异有统计学意义(P<0. 05),基因型频率差异无统计学意义(P>0. 05)。rs9984765 T/C位点的基因型和等位基因频率与Hap Map-YRI、Hap Map-JPT和Hap Map-HCB比较差异均有统计学意义(P<0. 05),与Hap Map-CEU比较差异无统计学意义(P> 0. 05)。结论广西人群S100B基因rs1051169 G/C和rs9984765 T/C位点存在多态性,且其多态性与不同种族和地区人群比较存在差异。
Objective To explore the distribution characteristics of S100 B gene rs1051169 G/C and rs9984765 T/C polymorphisms in Guangxi population,and to compare the distribution differences among different races and districts population. Methods Polymerase chain reaction-single base extension(SBE-PCR) and DNA sequencing were used to detect the genotype of rs1051169 G/C and rs9984765 T/C among 398 individuals in Guangxi. The results were compared with the allele and genotype of other four populations(Hap Map-CEU,Hap Map-YRI,Hap Map-JPT,Hap Map-HCB) from Haplotype Map(Hap Map). Results There were GG,CG and CC genotypes at the rs1051169 G/C of S100 B gene in Guangxi population,with frequencies of 41. 2%,44. 7% and 14. 1%,respectively,and G and C allele frequencies were63. 6% and 36. 4%,respectively. TT,CT and CC genotypes were found at rs9984765 T/C,with frequencies of 47. 7%,44. 5% and 7. 8%,respectively,and allele frequencies of T and C were 70. 0% and 30. 0%,respectively. There were no significant differences in genotype and allele frequencies of rs1051169 G/C and rs9984765 T/C among male and female in Guangxi population(P > 0. 05). The genotype and allele frequency of rs1051169 G/C in Guangxi population showed significant difference as compared with Hap Map-CEU,Hap Map-YRI and Hap Map-JPT(P<0. 01),the allele frequency of rs1051169 G/C in Guangxi population showed significant difference as compared with Hap Map-HBC(P<0. 05),but their genotype frequencies showed no significant difference as compared with Hap Map-CEU(P>0. 05). The genotype and allele frequency of rs9984765 T/C in Guangxi population showed significant difference as compared with Hap Map-YRI,Hap MapJPT and Hap Map-HBC(P < 0. 05),there was no significant difference compared with Hap Map-CEU(P > 0. 05).Conclusion The polymorphisms of rs1051169 G/C and rs9984765 T/C in S100 B gene in Guangxi populations,and their polymorphisms are different from different races and district populations.
Objective To explore the distribution characteristics of S100 B gene rs1051169 G/C and rs9984765 T/C polymorphisms in Guangxi population,and to compare the distribution differences among different races and districts population. Methods Polymerase chain reaction-single base extension(SBE-PCR) and DNA sequencing were used to detect the genotype of rs1051169 G/C and rs9984765 T/C among 398 individuals in Guangxi. The results were compared with the allele and genotype of other four populations(Hap Map-CEU,Hap Map-YRI,Hap Map-JPT,Hap Map-HCB) from Haplotype Map(Hap Map). Results There were GG,CG and CC genotypes at the rs1051169 G/C of S100 B gene in Guangxi population,with frequencies of 41. 2%,44. 7% and 14. 1%,respectively,and G and C allele frequencies were63. 6% and 36. 4%,respectively. TT,CT and CC genotypes were found at rs9984765 T/C,with frequencies of 47. 7%,44. 5% and 7. 8%,respectively,and allele frequencies of T and C were 70. 0% and 30. 0%,respectively. There were no significant differences in genotype and allele frequencies of rs1051169 G/C and rs9984765 T/C among male and female in Guangxi population(P > 0. 05). The genotype and allele frequency of rs1051169 G/C in Guangxi population showed significant difference as compared with Hap Map-CEU,Hap Map-YRI and Hap Map-JPT(P<0. 01),the allele frequency of rs1051169 G/C in Guangxi population showed significant difference as compared with Hap Map-HBC(P<0. 05),but their genotype frequencies showed no significant difference as compared with Hap Map-CEU(P>0. 05). The genotype and allele frequency of rs9984765 T/C in Guangxi population showed significant difference as compared with Hap Map-YRI,Hap MapJPT and Hap Map-HBC(P < 0. 05),there was no significant difference compared with Hap Map-CEU(P > 0. 05).Conclusion The polymorphisms of rs1051169 G/C and rs9984765 T/C in S100 B gene in Guangxi populations,and their polymorphisms are different from different races and district populations.
引文
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[9]Zhai J,Cheng L,Dong J,et al. S100B gene polymorphisms predict prefrontal spatial function in both schizophrenia patients and healthy individuals[J]. Schizophr Res,2012,134(1):89-94.
[10]Matsson H,Huss M,Persson H,et al. Polymorphisms in DCDC2and S100B associate with developmental dyslexia[J]. J Hum Genet,2015,60(7):399-401.
[11]Luo X,Mo ShN,Kong R,et al. Polymorphisms of S100BGene in children with developmental dyslexia in China[J]. Acta Medicinae Universitatis Scientiae et Technologiae Huazhong,2016,(4):394-397.(in Chinese)罗秀,莫胜男,孔锐,等.汉语阅读障碍儿童S100B基因多态性研究[J].华中科技大学学报(医学版),2016,(4):394-397.
[12]Fardell C,Zettergren A,Ran C,et al. S100B polymorphisms are associated with age of onset of Parkinson’s disease[J]. BMC Med Genet,2018,19(1):42.
[13]Huang HT,Lu YL,Wang R,et al. Polymorphisms of rs3819024and rs1974226 in interleukin-17A gene in Guangxi populations[J]. Acta Anatomica Sinica,2018, 49(2):246-250.(in Chinese)黄华佗,陆玉兰,王荣,等.广西人群白细胞介素17A基因rs3819024和rs1974226的多态性[J].解剖学报,2018,49(2):246-250.
[14]Wang XL,Zhao DX,Zhuang WT,et al. Correlation between genetic polymorphism and hypertensive disorder complicating pregnancy in Qinghai[J]. Acta Anatomica Sinica,2018,49(3):379-386.(in Chinese)王香林,赵得雄,庄文婷,等.基因多态性与青海妊娠高血压疾病的相关性[J].解剖学报,2018,49(3):379-386.
[2]Gulen B,Serinken M,Eken C,et al. Serum S100B as a surrogate biomarker in the diagnoses of burnout and depression in emergency medicine residents[J]. Acad Emerg Med,2016,23(7):786-789.
[3]Liu J,Zheng F,Long Y,et al. Preliminary analysis of parkinsonlike motor coordination abnormityin brain-specific hS100B transgenic mice[J]. Acta Academiae Medicinae Sinicae,2017,39(2):240-246.
[4]Chen S,Tian L,Chen N,et al. Cognitive dysfunction correlates with elevated serum S100B concentration in drug-free acutely relapsed patients with schizophrenia[J]. Psychiatry Res,2017,247:6-11.
[5]Gebhardt C,Lichtenberger R,Utikal J. Biomarker value and pitfalls of serum S100B in the follow-up of high-risk melanoma patients[J]. J Dtsch Dermatol Ges,2016,14(2):158-164.
[6]Shimizu A,Sakai Y,Ohno K,et al. A molecular genetic linkage map of mouse chromosome 10,including the Myb,S100b,Pah,Sl,and Ifg genes[J]. Biochem Genet,1992,30(9-10):529-535.
[7]Diaz-Romero J,Nesic D. S100A1 and S100B:calcium sensors at the cross-roads of multiple chondrogenic pathways[J]. J Cell Physiol,2017,232(8):1979-1987.
[8]Jensen JL,Indurthi VS,Neau DB,et al. Structural insights into the binding of the human receptor for advanced glycation end products(RAGE)by S100B,as revealed by an S100B-RAGEderived peptide complex[J]. Acta Crystallogr D Biol Crystallogr,2015,71(Pt 5):1176-1183.
[9]Zhai J,Cheng L,Dong J,et al. S100B gene polymorphisms predict prefrontal spatial function in both schizophrenia patients and healthy individuals[J]. Schizophr Res,2012,134(1):89-94.
[10]Matsson H,Huss M,Persson H,et al. Polymorphisms in DCDC2and S100B associate with developmental dyslexia[J]. J Hum Genet,2015,60(7):399-401.
[11]Luo X,Mo ShN,Kong R,et al. Polymorphisms of S100BGene in children with developmental dyslexia in China[J]. Acta Medicinae Universitatis Scientiae et Technologiae Huazhong,2016,(4):394-397.(in Chinese)罗秀,莫胜男,孔锐,等.汉语阅读障碍儿童S100B基因多态性研究[J].华中科技大学学报(医学版),2016,(4):394-397.
[12]Fardell C,Zettergren A,Ran C,et al. S100B polymorphisms are associated with age of onset of Parkinson’s disease[J]. BMC Med Genet,2018,19(1):42.
[13]Huang HT,Lu YL,Wang R,et al. Polymorphisms of rs3819024and rs1974226 in interleukin-17A gene in Guangxi populations[J]. Acta Anatomica Sinica,2018, 49(2):246-250.(in Chinese)黄华佗,陆玉兰,王荣,等.广西人群白细胞介素17A基因rs3819024和rs1974226的多态性[J].解剖学报,2018,49(2):246-250.
[14]Wang XL,Zhao DX,Zhuang WT,et al. Correlation between genetic polymorphism and hypertensive disorder complicating pregnancy in Qinghai[J]. Acta Anatomica Sinica,2018,49(3):379-386.(in Chinese)王香林,赵得雄,庄文婷,等.基因多态性与青海妊娠高血压疾病的相关性[J].解剖学报,2018,49(3):379-386.