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中国汉族人群中RBMS1基因rs7593730和BCAR1基因rs7202877与2型糖尿病的关联

Association between RBMS1 gene rs7593730 and BCAR1 gene rs7202877 and Type 2 diabetes mellitus in the Chinese Han population.

作者信息

Kazakova Elena V, Chen Meijun, Jamaspishvili Esma, Lin Zhang, Yu Jingling, Sun Lulu, Qiao Hong

机构信息

Department of Endocrinology and Metabolism, the Second Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, China.

General Hospital of Jixi Mining Group, Jixi, Heilongjiang, China.

出版信息

Acta Biochim Pol. 2018;65(3):377-382. doi: 10.18388/abp.2017_1451. Epub 2018 Sep 8.

Abstract

Two recent studies found that RBMS1 gene rs7593730 and BCAR1 gene rs7202877 are related to type 2 diabetes. However, the association of these loci with type 2 diabetes mellitus (T2DM) has not been examined in Chinese. We performed a replication study to investigate the association of the 2 susceptibility loci with T2DM in the Chinese population. We genotyped 1961 Chinese participants (991 with T2DM and 970 controls) for each of the 2 single nucleotide polymorphisms (SNPs) rs7593730 in RBMS1 and rs7202877 near BCAR1 using SNPscan and examined their association with T2DM using logistic regression analysis. We also analyzed the correlation of the SNP alleles and clinical phenotypes. In additive model, genotype association analysis of BCAR1 rs7202877 loci revealed that the homozygous of rs7202877 GG carriers had significantly decreased T2DM risk compared to homozygous carriers of TT (P=0.038, OR 0.44, 95% CI 0.20-0.96). In the recessive model, the GG genotype GG had significantly decreased T2DM risk compared to GT+TT (P=0.043, OR 0.67, 95% CI 0.46-0.99). Allele G was statistically significantly correlated with TC (mmol/L) (P=0.036) and LDL-C (mmol/L) (P=0.007). As for rs7593730, the carriers of CT and TT genotype had significantly decreased T2DM risk compared to the carriers of CC genotype (CT: CC P=0.038, OR 0.71, 95% CI 0.51-0.98; TT: CC P=0.010, OR 0.32, 95% CI 0.13-0.76). In a dominant model, TT+CT: CC (P=0.013, OR 0.673, 95% CI 0.49-0.92) and in a recessive model, TT: CT+CC (P=0.019, OR 0.59, 95% CI 0.39-0.92). The T allele carriers had significantly decreased T2DM risk compared to the carriers of C (P=0.002, OR 0.65, 95% CI 0.50-0.86). Allele T was statistically correlated with FINS (P=0.010). In conclusion, our study showed that RBMS1 gene rs7593730 and BCAR1 gene rs7202877 were significantly associated with type 2 diabetes in the Chinese population.

摘要

最近的两项研究发现,RBMS1基因rs7593730和BCAR1基因rs7202877与2型糖尿病有关。然而,这些基因位点与2型糖尿病(T2DM)的关联在中国人群中尚未得到研究。我们进行了一项重复研究,以调查这两个易感基因位点与中国人群T2DM的关联。我们使用SNPscan对1961名中国参与者(991例T2DM患者和970例对照)进行了RBMS1基因中的rs7593730和BCAR1附近的rs7202877这两个单核苷酸多态性(SNP)的基因分型,并使用逻辑回归分析检查它们与T2DM的关联。我们还分析了SNP等位基因与临床表型的相关性。在加性模型中,BCAR1 rs7202877基因位点的基因型关联分析显示,与TT纯合子携带者相比,rs7202877 GG纯合子携带者的T2DM风险显著降低(P = 0.038,OR 0.44,95% CI 0.20 - 0.96)。在隐性模型中,与GT + TT相比,GG基因型的T2DM风险显著降低(P = 0.043,OR 0.67,95% CI 0.46 - 0.99)。等位基因G与总胆固醇(TC,mmol/L)(P = 0.036)和低密度脂蛋白胆固醇(LDL-C,mmol/L)(P = 0.007)有统计学显著相关性。至于rs7593730,与CC基因型携带者相比,CT和TT基因型携带者的T2DM风险显著降低(CT:CC,P = 0.038,OR 0.71,95% CI 0.51 - 0.98;TT:CC,P = 0.010,OR 0.32,95% CI 0.13 - 0.76)。在显性模型中,TT + CT:CC(P = 0.013,OR 0.673,95% CI 0.49 - 0.92),在隐性模型中,TT:CT + CC(P = 0.019,OR 0.59,95% CI 0.39 - 0.92)。与C等位基因携带者相比,T等位基因携带者的T2DM风险显著降低(P = 0.002,OR 0.65,95% CI 0.50 - 0.86)。等位基因T与空腹胰岛素(FINS)有统计学相关性(P = 0.010)。总之,我们的研究表明,RBMS1基因rs7593730和BCAR1基因rs7202877与中国人群的2型糖尿病显著相关。

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