title: Haplotype association of calpain 10 gene variants with type 2 diabetes mellitus in an Irish sample.
abstract: BACKGROUND
  Calpain 10 (CAPN10) gene may contribute to the pathogenesis of type 2 diabetes mellitus (T2DM).
  
  
  OBJECTIVE
  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.
authors.affiliation: Department of Endocrinology, Connolly Hospital, Blanchardstwon, Dublin 15, Ireland. fuadsaraj@hotmail.com
authors.forename: F
authors.initials: F
authors.lastname: Alsaraj
authors.forename: D
authors.initials: D
authors.lastname: O'Gorman
authors.forename: S
authors.initials: S
authors.lastname: McAteer
authors.forename: J
authors.initials: J
authors.lastname: McDermott
authors.forename: Z
authors.initials: Z
authors.lastname: Hawi
authors.forename: S
authors.initials: S
authors.lastname: Sreenan
mesh_terms: D000483:Alleles; D002154:Calpain / Q000235:genetics*; D016022:Case-Control Studies; D003924:Diabetes Mellitus, Type 2 / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D005819:Genetic Markers; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007494:Ireland / Q000453:epidemiology; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D011110:Polymorphism, Genetic
chemical_list: D005819:Genetic Markers; D002154:Calpain; C415197:calpain 10