PMID- 20119856 OWN - NLM STAT- MEDLINE DCOM- 20101007 LR - 20211020 IS - 1863-4362 (Electronic) IS - 0021-1265 (Linking) VI - 179 IP - 2 DP - 2010 Jun TI - Haplotype association of calpain 10 gene variants with type 2 diabetes mellitus in an Irish sample. PG - 269-72 LID - 10.1007/s11845-010-0462-x [doi] AB - 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. FAU - Alsaraj, F AU - Alsaraj F AD - Department of Endocrinology, Connolly Hospital, Blanchardstwon, Dublin 15, Ireland. fuadsaraj@hotmail.com FAU - O'Gorman, D AU - O'Gorman D FAU - McAteer, S AU - McAteer S FAU - McDermott, J AU - McDermott J FAU - Hawi, Z AU - Hawi Z FAU - Sreenan, S AU - Sreenan S LA - eng PT - Journal Article DEP - 20100202 PL - Ireland TA - Ir J Med Sci JT - Irish journal of medical science JID - 7806864 RN - 0 (Genetic Markers) RN - EC 3.4.22.- (Calpain) RN - EC 3.4.22.- (calpain 10) SB - IM MH - Alleles MH - Calpain/*genetics MH - Case-Control Studies MH - Diabetes Mellitus, Type 2/epidemiology/*genetics/physiopathology MH - Female MH - Gene Deletion MH - Gene Frequency MH - Genetic Markers MH - Genetic Variation MH - Genotype MH - Haplotypes/*genetics MH - Humans MH - Ireland/epidemiology MH - Linkage Disequilibrium MH - Male MH - Middle Aged MH - Odds Ratio MH - Polymorphism, Genetic EDAT- 2010/02/02 06:00 MHDA- 2010/10/12 06:00 CRDT- 2010/02/02 06:00 PHST- 2009/02/11 00:00 [received] PHST- 2010/01/03 00:00 [accepted] PHST- 2010/02/02 06:00 [entrez] PHST- 2010/02/02 06:00 [pubmed] PHST- 2010/10/12 06:00 [medline] AID - 10.1007/s11845-010-0462-x [doi] PST - ppublish SO - Ir J Med Sci. 2010 Jun;179(2):269-72. doi: 10.1007/s11845-010-0462-x. Epub 2010 Feb 2.