Association between type 2 diabetes mellitus and TCF7L2 gene variant in the Pakistani cohort.

Introduction: Type 2 diabetes mellitus (T2DM) is one of the leading preventable chronic diseases with high rates of morbidity and mortality. It is multi-factorial, polygenic, and characterized by chronic hyperglycemia. Transcription factor 7-like 2 (TCF7L2), a key component of the canonical Wnt signaling pathway, is one of the most susceptible genes with the largest effect on T2DM. Pakistan is populated with the rising trend of T2DM in the adult population, hence to advocate the previous though scarce findings, this case–control study was designed to see T2DM prevalence and its association with TCF7L2 intronic variant, rs12255372. Methodology: DNA extraction and genotyping through the tetra primer amplification refractory mutation system (T-ARMS-PCR) were done on a total of 162 collected samples of the Pakistani cohort. Data was statistically analyzed by SPSS IBM v20 and the Hardy–Weinberg equilibrium test was applied to see the stratification. Results: The variant genotyped was in Hardy–Weinberg equilibrium (p > 0.05). The SNP rs12255372 showed an association with T2DM and remained significant after multiple adjustments for age and body mass index. The T allele showed a positive association in study subjects. Conclusion: The study concluded, TCF7L2 SNP, rs12255372 are associated with T2DM. The risk allele T is more susceptible to T2DM in the later age group (40–70 years) of females and the early age group (20–40 years) of males. This gender effect is a unique finding, and further, more replicated studies need to be carried out to determine the effects of risk factors. [ABSTRACT FROM AUTHOR]