The T-allele of the SNP rs12255372 of TCF7L2 (OR = 2.70, 95% CI = 1.12-6.49, P = 0.027) and the A-allele of PDX-1 D76N (OR = 3.93, 95% CI = 1.60-7.68, P = 0.002) were significantly associated with an increased risk of T2DM.
The D76N variant of PDX1 does not significantly alter insulin secretion or act as a high-risk susceptibility allele for late-onset type 2 diabetes as proposed previously, although we cannot exclude a minor role in increasing risk of diabetes.
We genotyped U.S. Caucasians with (n = 217) and without (n = 176) Type 2 diabetes to determine if three previously identified variants (Cys18Arg, Asp76Asn, Arg197His) in the IPF-1 gene play a role in the development of Type 2 diabetes.
In the patients with late-onset type 2 diabetes we identified a noncoding G insertion/deletion polymorphism at nucleotide -108, a silent G54G, and a rare missense D76N variant.