El-Lebedy Dalia, Ashmawy Ingy
Department of Clinical and Chemical Pathology, Medical Research Division, National Research Centre, Cairo, Egypt.
J Genet Eng Biotechnol. 2016 Dec;14(2):247-251. doi: 10.1016/j.jgeb.2016.10.004. Epub 2016 Nov 5.
In this work we studied association of common variants in transcription factor 7-like 2 () and cyclin-dependent kinase 5 regulatory subunit-associated protein 1-like 1 () genes with type 2 diabetes mellitus (T2DM) in Egyptians.
This is a case-control study; 180 T2DM patients and 210 control subjects were genotyped for rs7903146 and rs12255372 and rs7756992 single nucleotide polymorphisms (SNPs) by TaqMan method on real time polymerase chain reaction system (real time-PCR).
rs12255372 and rs7903146 associated with T2DM ( = 0.0001 and 0.003; respectively). The rs12255372 variant T allele associated with 2-fold increased risk for T2DM and TT genotype carriers were at 3.58-folds higher risk to develop T2DM than wild genotype (GG) carriers. Meanwhile, rs7903146 variant T allele associated with 1.6-fold increased risk for T2DM and TT genotype carriers were at 2.3-folds higher risk than wild genotype (CC) carriers. Both SNPs significantly associated with T2DM under additive and dominant models and after adjustment for other covariates. On the other hand, rs7756992 showed no significant association with T2DM under any genetic model. Both SNPs were in strong LD ( = 0.02; ' = 0.85). Taking common rs12255372/rs7903146 GC haplotype as reference, multivariate analysis confirmed the association of rs12255372 T allele-containing haplotypes (TC and TT) with T2DM. Haplotype TC associated with 6.32 times-higher risk for T2DM (95%CI = 0.55-76.17, Pc = 0.04) followed by haplotype TT which associated with 3.88 times-higher risk for the disease (95%CI = 1.09-13.76, Pc = 0.03).
rs12255372 and rs7903146 common variants associate with T2DM risk in Egyptians.
在本研究中，我们调查了埃及人群中，转录因子7样蛋白2（）和细胞周期蛋白依赖性激酶5调节亚基相关蛋白1样蛋白1（）基因的常见变异与2型糖尿病（T2DM）之间的关联。
这是一项病例对照研究；采用实时聚合酶链反应系统（实时PCR）上的TaqMan方法，对180例T2DM患者和210例对照者进行rs7903146、rs12255372以及rs7756992单核苷酸多态性（SNP）基因分型。
rs12255372和rs7903146与T2DM相关（分别为=0.0001和0.003）。rs12255372变异的T等位基因使T2DM风险增加2倍，TT基因型携带者患T2DM的风险比野生基因型（GG）携带者高3.58倍。同时，rs7903146变异的T等位基因使T2DM风险增加1.6倍，TT基因型携带者的患病风险比野生基因型（CC）携带者高2.3倍。在加性和显性模型下以及对其他协变量进行调整后，这两个SNP均与T2DM显著相关。另一方面，rs7756992在任何遗传模型下均未显示与T2DM有显著关联。这两个SNP处于强连锁不平衡状态（=0.02；'=0.85）。以常见的rs12255372/rs7903146 GC单倍型为参照，多变量分析证实了含rs12255372 T等位基因的单倍型（TC和TT）与T2DM相关。单倍型TC使T2DM风险升高6.32倍（95%CI=0.55 - 76.17，Pc=0.04），其次是单倍型TT，其使患病风险升高3.88倍（95%CI=1.09 - 13.76，Pc=0.03）。
rs12255372和rs7903146的常见变异与埃及人群的T2DM风险相关。
