网状蛋白4基因rs2588519 T/C和rs7582359 A/G多态性在广西人群中的分布
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摘要
目的研究广西人群中网状蛋白4(RTN4)基因rs2588519 T/C及rs7582359 A/G位点多态性的分布特征,对比分析不同种族间这两个位点基因型及等位基因频率的分布差异。方法运用多重单碱基延伸技术和DNA测序方法检测323例广西健康体检者的RTN4基因rs2588519 T/C及rs7582359 A/G位点基因型,分析其基因型及等位基因频率的分布,并对比HapMap(国际人类基因组单体型图计划)公布的欧洲人、日本人、非洲人和北京人的多态性数据。结果在广西人群中,RTN4基因rs2588519 T/C位点存在CC(53.0%)、TC(38.7%)、TT(8.3%) 3种基因型;rs7582359 A/G位点存在AA(7.4%)、AG(37.5%)、GG(55.1%) 3种基因型,这两位点的基因型及等位基因频率在男女间差异无统计学意义(P>0.05)。rs2588519 T/C位点基因型与非洲人群比较差异具有统计学意义(P<0.05),其等位基因则与欧洲人、日本人和非洲人差异具有统计学意义(P<0.05);rs7582359 A/G位点基因型及等位基因与欧洲人、非洲人比较差异均有统计学意义(P<0.05)。结论 RTN4基因rs2588519 T/C及rs7582359 A/G位点多态性分布存在不同程度的种族差异。
Objective To study the distribution of rs2588519 T/C and rs7582359 A/G polymorphisms of reticulon 4(RTN4)gene in population of Guangxi, and to analyze the differences of genotype and allele frequencies among different people. Methods The genotypes of rs2588519 T/C and rs7582359 A/G in 323 Guangxi healthy subjects were detected by SNaPshot and DNA sequencing. The distribution of genotype and allele frequencies were analyzed and compared with HapMap-CEU, HapMap-JPT, HapMap-YRI and HapMap-HCB. Results There were CC(53.0%),T/C(38.7%) and TT(8.3%) genotypes of rs2588519 T/C in Guangxi population, while AA(7.4%), AG(37.5%) and GG(55.1%) were found in rs7582359 A/G. There were no significant differences of both genotype and allele frequencies between males and females in these sites(P>0.05). The genotype frequency of rs2588519 T/C was significantly different between HapMap-YRI and Guangxi people(P<0.05), and the allele frequency was significantly different among HapMap-CEU, HapMap-JPT and HapMap-YRI(P<0.05). The genotype and allele of rs7582359 A/G were statistically significant(P<0.05) when compared with those of HapMap-CEU and HapMap-YRI. Conclusion The rs2588519 T/C and rs7582359 A/G polymorphisms of RTN4 gene have different degrees of racial differences.
Objective To study the distribution of rs2588519 T/C and rs7582359 A/G polymorphisms of reticulon 4(RTN4)gene in population of Guangxi, and to analyze the differences of genotype and allele frequencies among different people. Methods The genotypes of rs2588519 T/C and rs7582359 A/G in 323 Guangxi healthy subjects were detected by SNaPshot and DNA sequencing. The distribution of genotype and allele frequencies were analyzed and compared with HapMap-CEU, HapMap-JPT, HapMap-YRI and HapMap-HCB. Results There were CC(53.0%),T/C(38.7%) and TT(8.3%) genotypes of rs2588519 T/C in Guangxi population, while AA(7.4%), AG(37.5%) and GG(55.1%) were found in rs7582359 A/G. There were no significant differences of both genotype and allele frequencies between males and females in these sites(P>0.05). The genotype frequency of rs2588519 T/C was significantly different between HapMap-YRI and Guangxi people(P<0.05), and the allele frequency was significantly different among HapMap-CEU, HapMap-JPT and HapMap-YRI(P<0.05). The genotype and allele of rs7582359 A/G were statistically significant(P<0.05) when compared with those of HapMap-CEU and HapMap-YRI. Conclusion The rs2588519 T/C and rs7582359 A/G polymorphisms of RTN4 gene have different degrees of racial differences.
引文
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[11] Zhang K, Bai P, Shi S, et al. Association of genetic variations in RTN4 3’-UTR with risk of uterine leiomyomas[J]. Pathol Oncol Res, 2013, 19(3): 475-479.
[12] Shi S, Zhou B, Wang Y, et al. Genetic variation in RTN4 3’-UTR and susceptibility to cervical squamous cell carcinoma[J]. DNA Cell Biol, 2012, 31(6): 1088-1094.
[13] Hao CQ, Zhou Y, Wang JP, et al. Role of NogoA in the regulation of hepatocellular carcinoma SMMC7721 cell apoptosis[J]. Mol Med Rep, 2014, 9(5): 1743-1748.
[14] Xiao W, Zhou S, Xu H, et al. Nogo-B promotes the epithelial-mesenchymal transition in HeLa cervical cancer cells via Fibulin-5[J]. Oncol Rep, 2013, 29(1): 109-116.
[15] Jo BS, Choi SS. Introns: The functional benefits of introns in genomes[J]. Genomics Inform, 2015, 13(4): 112-118.
[2] Zhu ShSh, Li SF. Correlation between D6S296, D8S264 gene polymorphism and schizophrenia of Han/Zhuang people in Guangxi[J]. Acta Anatomica Sinica, 2014, 45(2): 286-290.(in Chinese)朱莎莎,李松峰. D6S296、D8S264基因座多态性与广西地区汉/壮族人群精神分裂症的关联性[J]. 解剖学报, 2014, 45(2): 286-290.
[3] Shibata Y, Voss C, Rist JM, et al. The reticulon and DP1/Yop1p proteins form immobile oligomers in the tubular endoplasmic reticulum[J]. J Biol Chem, 2008, 283(27): 18892-18904.
[4] Voeltz GK, Prinz WA, Shibata Y, et al. A class of membrane proteins shaping the tubular endoplasmic reticulum[J]. Cell, 2006, 124(3): 573-586.
[5] Chiurchiu Ⅴ, Maccarrone M, Orlacchio A. The role of reticulons in neurodegenerative diseases[J]. Neuromolecular Med, 2014, 16(1): 3-15.
[6] Teng FY, Tang BL. Nogo/RTN4 isoforms and RTN3 expression protect SH-SY5Y cells against multiple death insults[J]. Mol Cell Biochem, 2013, 384(1-2): 7-19.
[7] Oertle T, Schwab ME. Nogo and its paRTNers[J]. Trends Cell Biol, 2003, 13(4): 187-194.
[8] Oertle T, Huber C, van der Putten H, et al. Genomic structure and functional characterisation of the promoters of human and mouse nogo/rtn4[J]. J Mol Biol, 2003, 325(2): 299-323.
[9] Zhao HY, Zhu WW, Wang JL. Advances of Nogo-A protein and Nogo receptor inhibitors on the prevention and control of central nervous system diseases[J]. China Modern Medicine, 2011, 18 (36): 1920-1927.(in Chinese)赵红洋, 朱薇薇, 王金丽. Nogo-A蛋白及Nogo受体抑制剂防治中枢神经系统疾病的研究进展[J]. 中国当代医药, 2011,18 (36): 1920-1927.
[10] Xu WJ, Shen GQ, Li Q. Biological function of Nogo-B[J]. Acta Physiologica Sinica, 2013,65 (4): 445-450.(in Chinese)胥武剑, 沈国庆, 李强. Nogo-B的生物学功能[J]. 生理学报, 2013,65 (4): 445-450.
[11] Zhang K, Bai P, Shi S, et al. Association of genetic variations in RTN4 3’-UTR with risk of uterine leiomyomas[J]. Pathol Oncol Res, 2013, 19(3): 475-479.
[12] Shi S, Zhou B, Wang Y, et al. Genetic variation in RTN4 3’-UTR and susceptibility to cervical squamous cell carcinoma[J]. DNA Cell Biol, 2012, 31(6): 1088-1094.
[13] Hao CQ, Zhou Y, Wang JP, et al. Role of NogoA in the regulation of hepatocellular carcinoma SMMC7721 cell apoptosis[J]. Mol Med Rep, 2014, 9(5): 1743-1748.
[14] Xiao W, Zhou S, Xu H, et al. Nogo-B promotes the epithelial-mesenchymal transition in HeLa cervical cancer cells via Fibulin-5[J]. Oncol Rep, 2013, 29(1): 109-116.
[15] Jo BS, Choi SS. Introns: The functional benefits of introns in genomes[J]. Genomics Inform, 2015, 13(4): 112-118.