Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome

  • Haddad L
  • Evans J
  • Gharani N
 et al. 
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Variation within the calpain-10 gene (CAPN10) has been proposed to account for linkage to type 2 diabetes on chromosome 2q in Mexican-Americans, and associations with diabetes have been reported in several other populations. Given the epidemiological, physiological, and genetic overlap between type 2 diabetes and polycystic ovary syndrome (PCOS), CAPN10 represents a strong candidate gene for a role in PCOS susceptibility. Using both family based and case-control association resources (146 parent-offspring trios; 185 additional PCOS cases; 525 control subjects, all of European ancestry), we sought association between CAPN10 variation and PCOS, focusing on four single nucleotide polymorphism (SNP) variants (SNP-44, SNP-43; SNP-19; SNP-63). On single-locus transmission disequilibrium analysis in the 146 trios, there was nominal evidence (P = 0.03) of excess transmission of the more common allele at SNP-63. This association was not, however, replicated in the case-control analysis. No other significant associations were observed at the single-locus or haplotype level in either the transmission-disequilibrium or case-control analyses. The relative risk for the high-risk diabetes susceptibility 112/121 genotype (SNPs 43-19-63) was 0.84 (95% confidence intervals, 0.40-1.71). No associations were seen with intermediate traits of relevance to diabetes and PCOS pathogenesis. We have found no evidence from these analyses that CAPN10 gene variation influences susceptibility to PCOS.

Author-supplied keywords

  • *Genetic Variation
  • Adult
  • Calpain/*genetics
  • Case-Control Studies
  • Chromosome Mapping
  • Diabetes Mellitus, Type 2/*genetics
  • Female
  • Genetic Predisposition to Disease/*genetics
  • Humans
  • Polycystic Ovary Syndrome/*genetics
  • Quantitative Trait, Heritable

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  • L Haddad

  • J C Evans

  • N Gharani

  • C Robertson

  • K Rush

  • S Wiltshire

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