Association of ENPP1 (K121Q rs 1044498) and TCF7L2 (C/T rs7903146) Gene Polymorphisms with Type2 Diabetes in Zanjan population (Northwest, Iran)

Background and Objective: Ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) is a class II membrane glycoprotein that binds to insulin α receptor and can interfere in insulin signaling pathway. Transcription factor-7-like 2 (TCF7L2) is a transcription factor which plays a critical role in pancreatic β cell activity. ENPP1 and TCF7L2 gene polymorphisms may have functional role in susceptibility to type2 diabetes (T2D). The aim of this study was to investigate the association of reported K121Q and C/T rs7903146 variants of ENPP1 and TCF7L2 genes with the risk of T2D in our population Material and Methods: 240 T2D and 240 healthy subjects were recruited. Genotyping was carried out by PCR-RFLP method. T test was used for association study. Results: ENPP1 121Q (CC) genotype was significantly higher in T2D comparing to controls (OR;1.61, 95% CI;1.02-2.55, P=0.02) and a significant association between the frequency of C allele and T2D was observed (OR;1.339, 95%CI;1.04-1.72, P=0.012). TT genotype of TCF7L2 C>T rs7903146 was significantly higher in T2D patients (OR;0.67, 95% CI;0.49-0.98, P=0.02), but the T allele could not significantly affect the risk for T2D in our population. Conclusion: The high frequency of Q allele of the ENPP1 K121Q and TT genotype of the TCF7L2 might be considered as a predisposing factor for T2D.