rs6031552

This prospective association study examined eight HNF4A gene SNPs in 769 subjects from the STOP-NIDDM trial to determine their association with conversion from impaired glucose tolerance to type 2 diabetes. The authors found that rs4810424, rs2071197, and rs3818247 were significantly associated with diabetes risk, with rs4810424 showing a 1.7-fold elevated risk (OR 1.70, 95% CI 1.09-2.66, P=0.020) in female carriers of the C allele. A haplotype carrying all three risk alleles showed 5.28-fold increased diabetes risk (95% CI 1.79-15.52, P=0.003).

This case-control and family-based association study examined whether HNF4α promoter polymorphisms (rs2144908, rs1884614, rs6031552, rs2425637) associated with type 2 diabetes in Finnish and Ashkenazi Jewish populations confer disease risk in French Caucasians. In 744 type 2 diabetic patients and 686 controls, no significant association was found for rs6031552 or rs2425637, while rs2144908 showed the opposite effect (OR 0.80, p=0.022) compared to prior studies. Family-based linkage analysis in 148 diabetic families also did not support association.