当前的研究旨在调查印度北部人群中常见遗传风险变异与妊娠糖尿病(GDM)风险的关联,并评估其在识别GDM病例中的实用性。病例对照研究,包括300名孕妇,包括在内,收集临床和病理资料。扩增-难治性突变系统(ARMS)用于基因分型四个单核苷酸多态性(SNP),即FTO(RS9939609),PPARG2(rs1801282),SLC30A8(rs13266634),和TCF7L2(rs12255372)。在不同的遗传模型中确定每个SNP的比值比和置信区间。Further,可归因风险,人口外显率,还计算了相对风险。FTO的风险等位基因A(rs9939609)构成GDM的风险高两倍(p=0.02,OR=2.5)。PPARG2的CG和GG基因型(rs1801282)具有低一半的GDM风险。在SLC30A8(rs13266634)中,隐性模型分析显示患GDM的风险高两倍,而隐性模型(TTvs.TCF7L2(rs12255372)中的GG+GT)分析表明GDM的风险较低。最后,相对风险,人口外显率,在GDM母亲中,所有4种变异的风险等位基因归因风险均较高.发现所有四个多态性与BMI显着相关,HbA1c,和胰岛素。我们的研究首次证实了四种变异与GDM的显著关联,FTO,北印度人口中的PPARG2,SLC30A8和TCF7L2。
The current study sought to investigate the associations of common genetic risk variants with gestational diabetes mellitus (GDM) risk in the north Indian population and to evaluate their utility in identifying GDM cases. A case-control study, including 300 pregnant women, was included, and clinical and pathological information was collected. The amplification-refractory mutation system (ARMS) was used for genotyping four single nucleotide polymorphisms (SNPs), namely FTO (rs9939609), PPARG2 (rs1801282), SLC30A8 (rs13266634), and TCF7L2 (rs12255372). The odds ratio and confidence interval were determined for each SNP in different genetic models. Further, attributable risk, population penetrance, and relative risk were also calculated. The risk allele A of FTO (rs9939609) poses a two times higher risk of GDM (p = 0.02, OR = 2.5). The CG and GG genotypes of PPARG2 (rs1801282) have half a lower risk of GDM. In SLC30A8 (rs13266634), the recessive model analysis showed a two times higher risk of having GDM, while the recessive model (TT vs. GG + GT) analysis in TCF7L2 (rs12255372) indicates a lower risk of GDM. Finally, the relative risk, population penetrance, and attributable risk for risk allele in all four variants was higher in GDM mothers. All four polymorphisms were found to be significantly associated with BMI, HbA1c, and insulin. Our study first time confirmed a significant association with GDM for four variants, FTO, PPARG2, SLC30A8, and TCF7L2, in the North Indian population.