Department of Medical Biology, Faculty of Medicine, Selçuk University, Konya, Turkey.
Department of Medical Informatics and Biostatistics, Karabük University, Karabük, Turkey.
Turk J Med Sci. 2017 Feb 27;47(1):22-28. doi: 10.3906/sag-1507-160.
BACKGROUND/AIM: Type 2 diabetes (T2D) is1397645907a multifactorial disease, determined by environmental and genetic factors. Currently, the transcription factor 7-like 2 (TCF7L2) gene shows the strongest association with T2D. In this study, we investigated whether TCF7L2 gene polymorphisms are associated with T2D in a Turkish population.
Using PCR-RFLP and PCR-SSCP, we genotyped six intronic polymorphisms in the TCF7L2 gene, commonly associated with T2D, in 169 individuals with diabetes and 119 healthy controls.
We found that rs7903146 C → T substitution in intron 3 (OR: 1.9, P = 0.005) and rs12255372 G → T substitution in intron 4 (OR: 2.1, P = 0.002) were significantly associated with T2D while other SNPs were not associated (P > 0.05). We determined no association between TCF7L2 gene polymorphisms and fasting glucose, fasting insulin, HbA1c, or HOMA-IR levels (P > 0.05), except for rs7903146 C → T substitution, which was significantly associated with the fasting glucose level (P = 0.003).
Our results indicate that, in the Turkish population, the T allele of the rs7903146 (C → T) and rs12255372 (G → T) polymorphisms in the TCF7L2 gene is an independent risk factor for the development of T2D.
背景/目的:2 型糖尿病(T2D)是一种多因素疾病,由环境和遗传因素共同决定。目前,转录因子 7 样 2(TCF7L2)基因与 T2D 相关性最强。本研究旨在探讨 TCF7L2 基因多态性与土耳其人群 T2D 的相关性。
采用 PCR-RFLP 和 PCR-SSCP 技术,对 169 例糖尿病患者和 119 例健康对照者的 TCF7L2 基因 6 个内含子多态性进行基因分型,这些多态性与 T2D 密切相关。
我们发现,第 3 内含子 rs7903146 C→T 替换(OR:1.9,P = 0.005)和第 4 内含子 rs12255372 G→T 替换(OR:2.1,P = 0.002)与 T2D 显著相关,而其他 SNPs 则无相关性(P>0.05)。我们还发现,TCF7L2 基因多态性与空腹血糖、空腹胰岛素、HbA1c 或 HOMA-IR 水平均无相关性(P>0.05),但 rs7903146 C→T 替换除外,其与空腹血糖水平显著相关(P = 0.003)。
在土耳其人群中,TCF7L2 基因 rs7903146(C→T)和 rs12255372(G→T)多态性的 T 等位基因是 T2D 发生的独立危险因素。