Context: A genome-wide association study in the French population has detected that novel single-nucleotide polymorphisms (SNPs) in the IDE-KIF11-HHEX gene locus and the SLC30A8 gene locus are associated with susceptibility to type 2 diabetes.

Objective: We investigated whether SNPs in these loci were associated with type 2 diabetes in Japanese.

Design: Two SNPs, rs7923837 and rs1111875, in the IDE-KIF11-HHEX gene locus and one SNP, rs13266634, in the SLC30A8 gene locus were genotyped in Japanese type 2 diabetic patients (n = 405) and in non-diabetic control subjects (n = 340) using TaqMan genotyping assay system.

Results: The G allele of rs7923837 was associated with type 2 diabetes (odds ratio 1.66, [95% CI 1.28–2.15], p=0.00014), following the same tendency as in the French population of the previous report. Heterozygous and homozygous carriers of the risk allele had odds ratios of 1.57 (95% CI 1.15–2.16, p=0.0050) and 3.16 (95% CI 1.40–7.16, p=0.0038) relative to non-carriers. Although the G allele was a major allele (66.5%) in the French population, it was a minor allele (23.8%) in Japanese. The G allele of rs1111875 was also associated with type 2 diabetes (odds ratio 1.42, [95% CI 1.13–1.78], p=0.0024). Heterozygous and homozygous carriers of the risk allele had odds ratios of 1.31 (95% CI 0.97–1.77, p=0.0810) and 2.40 (95% CI 1.34–4.32, p=0.0028) relative to non-carriers. A significant association with type 2 diabetes was not observed for rs13266634.

Conclusions: Polymorphisms in the IDE-KIF11-HHEX gene locus are associated with susceptibility to type 2 diabetes across the boundary of race.