A replication study of 49 Type 2 diabetes risk variants in a Punjabi Pakistani population.

Aim The burden of Type 2 diabetes is alarmingly high in South Asia, a region that has many genetically diverse ethnic populations. Genome-wide association studies ( GWAS) conducted largely in European populations have identified a number of loci predisposing to Type 2 diabetes risk, however, the relevance of such genetic loci in many South Asian sub-ethnicities remains elusive. The aim of this study was to replicate 49 single nucleotide polymorphisms ( SNPs) previously identified through GWAS in Punjabis living in Pakistan. Methods We examined the association of 49 SNPs in 853 Type 2 diabetes cases and 1945 controls using additive logistic regression models after adjusting for age and gender. Results Of the 49 SNPs investigated, eight showed a nominal association ( P < 0.05) that also remained significant after controlling for the false discovery rate. The most significant association was found for rs7903146 at the TCF7L2 locus. For a per unit increase in the risk score comprising of all the 49 SNPs, the odds ratio in association with Type 2 diabetes risk was 1.16 (95% CI 1.13-1.19, P < 2.0E-16). Conclusion These results suggest that some Type 2 diabetes susceptibility loci are shared between Europeans and Punjabis living in Pakistan. [ABSTRACT FROM AUTHOR]