Background: Calpain 10 (CAPN10) gene may contribute to the pathogenesis of type 2 diabetes mellitus (T2DM).
Aim: To examine the contribution of four CAPN10 gene variants to T2DM risk in an Irish sample.
Methods: Genotyping of marker 19 insertion-deletion (ins/del) and three CAPN10 variants, rs3792267, rs3749166 and rs5030952 at the CAPN10 gene was performed in 236 T2DM subjects and 120 controls. Allelic, genotypic and haplotype comparisons were conducted between the groups.
Results: In the examined markers, no significant differences were observed although the deletion/deletion allele tended to be more common in T2DM subjects (chi(2) = 3.2, P = 0.07). A significant overrepresentation of a haplotype comprising (rs3792267), (19) and rs3749166 (chi(2) = 5.3, P = 0.021) was seen in T2DM subjects. Two protective haplotypes were detected: (G-ins-G) of (rs3792267), (19) and rs3749166 (chi(2) = 6.7, P = 0.009) and (ins-G-C) of (19), (rs3749166) and rs5030952 (chi(2) = 8.5, P = 0.003).
Conclusions: CAPN10 gene variants may affect T2DM susceptibility in the Irish population.