SH2B1基因多态性与2型糖尿病相关性研究

Correlation between SH2B1 gene polymorphism and type 2 diabetes mellitus

目的探讨SH2B1基因的单核苷酸多态性(SNP)与2型糖尿病(T2DM)遗传易感性的相关性。方法本研究共纳入120例T2DM患者(DM组)和100名健康对照者(NC组)。通过sanger测序法测序SH2B1基因的外显子9,寻找其中与T2DM相关的SNP位点,比较分析各基因型与T2DM遗传易感性之间的关系,分析SH2B1基因多态性与T2DM的相关性。结果比较2组资料显示,DM组患者在体质量指数(BMI)、腰围、甘油三酯(TG)、糖化血红蛋白(HbA_(1c))、空腹血糖(FPG)、空腹胰岛素(Fins)、HOMA计算器软件计算稳态模型(HOMA2)-IR、HOMA2%S及HOMA2%B均较NC组差异有统计学意义(P<0.01)。DM组高密度脂蛋白胆固醇(HDL-C)低于NC组,差异具有统计学意义(P=0.023)。测序结果分析,发现了SH2B1外显子9上的rs117374029可能与T2DM相关,rs117374029的基因型GG、GT组间差异具有统计学意义(P=0.002)。等位基因G、T组间差异具有统计学意义(P=0.036)。结论SH2B1基因位点rs117374029多态性与T2DM遗传易感性明显相关,且基因型GT与GG在胰岛素抵抗、胰岛素敏感性方面差异有统计学意义。

Objective To investigate the correlation between single nucleotide polymorphism(SNP)of SH2B1 gene and genetic susceptibility to type 2 diabetes(T2DM).Methods A total of 120 T2DM patients(DM group)and 100 healthy controls(NC group)were included in this study.The exon 9 of SH2B1 gene was sequenced by Sanger sequencing method to identify the SNP sites related to T2DM,and the relationship between each genotype and T2DM genetic susceptibility was compared and analyzed.The correlation between SH2B1 gene polymorphism and T2DM was determined.Results Comparing the data in the two groups showed that there were significant differences in BMI,waist circumference,TG,HbA_(1c),FPG,Fins,HOMA2-IR,HOMA2%S and HOMA2%B between the DM group and NC group(P<0.01).The HDL-C level in the DM group was lower than that in the NC group,with statistically significant difference(P=0.023).Sequencing analysis revealed that rs117374029 on SH2B1 exon 9 may be related to T2DM,and there were statistically significant differences in the genotypes GG and GT of rs117374029 between the groups(P=0.002).There were statistically significant differences between allele G and T groups(P=0.036).Conclusion The rs117374029 polymorphism of SH2B1 gene locus is obviously related to the genetic susceptibility of T2DM,and there are significant differences in insulin resistance and insulin sensitivity between genotypes GT and GG.