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目的:研究rs3923113-GRB14,rs1802295-VPS26A,rs7178572-HMG20A三基因单核苷酸多态性(SNPs)与2型糖尿病(T2DM)及相关代谢指标的相关性。方法:用高分辨率溶解曲线(HRM)小片段基因分型方法检测300例T2DM者及300例健康体检者3SNP位点基因型及等位基因频率分布。结果:各SNP基因型分布符合遗传平衡定律。rs231362(KCNQ1)的风险基因C患病风险是T等位基因的1.058倍(P=0.012,OR=1.058,95%CI:1.012~1.106)。rs231362(KCNQ1)的3种基因型(TT、CT、CC)在T2DM组与对照组中的分布频率分别为0.7%、19.9%、75.6%和2.7%、25.6%、71.7%,2组基因型分布差异有统计学意义(P=0.031)。该位点在其隐性模型中(CC VS CT+TT),2组差异有统计学意义(P=0.028,OR=1.11,95%CI:1.01~1.22)。rs3923113-GRB14、rs7178572-HMG20A基因型分布在病例组与对照组中未见显著性差异。我们分析了对照组血糖血脂与各SNP位点基因型之间的关系,rs3923113在显性模型[(TT+GT)/GG]下TT+GT组总胆固醇(TC)值低于GG组;TT+GT组高密度脂蛋白(HDL-C)1.07(0.90~1.19)mmol/L低于GG组1.21(1.02~1.41)mmol/L,P值分别为0.017与0.036。结论:rs231362-KCNQ1可能与中国人群T2DM发病有关。rs3923113-GRB14与TC及HDL-C升高有关。
AIM: To investigate the association of rs3923113-GRB14, rs1802295-VPS26A, rs7178572-HMG20A SNPs with type 2 diabetes mellitus (T2DM) and related metabolic parameters. Methods: Genotypes and allele frequency distributions of 3SNP loci in 300 cases of T2DM and 300 cases of healthy subjects were detected by HRM mini-genotyping. Results: The genotype distribution of each SNP conformed to the law of genetic balance. The risk of rs231362 (KCNQ1) was 1.058 times that of the T allele (P = 0.012, OR = 1.058, 95% CI: 1.012-1.106). The distribution frequencies of three genotypes (TT, CT, CC) of rs231362 (KCNQ1) in T2DM group and control group were 0.7%, 19.9%, 75.6% and 2.7%, 25.6% and 71.7% The distribution difference was statistically significant (P = 0.031). In the recessive model (CC VS CT + TT), the difference between the two groups was statistically significant (P = 0.028, OR = 1.11, 95% CI: 1.01-1.22). rs3923113-GRB14, rs7178572-HMG20A genotype distribution in the case group and control group no significant difference. We analyzed the relationship between the levels of blood glucose and lipid in control group and genotypes of SNPs. The total cholesterol (TC) of rs3923113 in TT + GT group was lower than that in GG group in dominant model [(TT + GT) / GG); TT + HDL-C 1.07 (0.90-1.19) mmol / L in GT group was lower than 1.21 (1.02-1.41) mmol / L in GG group, P values were 0.017 and 0.036 respectively. Conclusion: rs231362-KCNQ1 may be involved in the pathogenesis of T2DM in Chinese population. rs3923113-GRB14 and TC and HDL-C increased.