INSIG1基因rs9769826多态性与2型糖尿病关系

THE RELATIONSHIP BETWEEN rs9769826 SINGLE NUCLEOTIDE POLYMORPHISM OF INSIG1 GENE AND TYPE 2 DIABETES MELLITUS

目的探讨胰岛素诱导基因1(INSIG1)基因rs9769826位点单核苷酸多态性(SNPs)与青岛地区汉族人群2型糖尿病(T2DM)关系。方法采用频数匹配病例对照研究方法,选取125例T2DM病人和125例正常对照者,用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)检测技术,对其INSIG1基因rs9769826多态性进行基因分型,比较两组基因型频率和等位基因频率。结果 T2DM组INSIG1基因rs976982位点AA、AG、GG基因型频率分别为58.4%、37.6%和4.0%,对照组分别为76.8%、20.0%和3.2%,两组比较差异具有显著性(χ2=9.964,P<0.01);两组间G等位基因频率分别为22.8%、13.2%,病例组高于对照组(χ2=7.805,P<0.01)。多因素非条件Logistic回归分析显示,在控制混杂因素后,携带突变位点G的基因型(AG+GG)与T2DM有关(OR=3.220,95%CI=1.550～6.686)。结论 INSIG1基因rs9769826位点多态性与青岛地区汉族人群T2DM有关。

Objective To explore the relationship between rs9769826 single nucleotide polymorphism （SNP） of INSIG1 gene and type 2 diabetes （T2DM） in Han people of Qingdao area. Methods By using frequency matched case-control study de- sign, 125 patients with T2DM and 125 normal controls were enrolled. The rs9769826 polymorphism of INSIG1 gene was geno- typed by employing polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） method. The difference be- tween genotypic frequency and allelic frequency was compared in T2DM and normal controls. Results The frequencies of AA, AG and GG genotype in T2DM were 58.4%, 37.6% and 4.0%, and that in the control were 76.8~ , 20.0~ and 3.2%, respc- tively, the differences being significant （χ^2=9. 964, P^0.01）, G allele frequency in DM group was higher than that in the control, 22.8 % vs 13.2 （χ^2= 7. 805, P%0.01）. After control of confounding factors, multiple factor unconditional logistic regression analysis showed that AG＋GG genotype of carrying mutation G was associated with T2DM （OR= 3. 220,95 %CI= 1. 550-6. 686）. Conclusion The point polymorphism of rs9769826 of INSIG1 gene is associated with Type 2 diabetes in Han people of Qingdao.