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

Journal article

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.

Authors: Haddad, L; Evans, J; Gharani, N; Robertson, C; Rush, K

• Publication status: Published
• Journal: Journal of clinical endocrinology and metabolism
• Volume: 87
• Issue: 6
• Pages: 2606-2610
• Publication date: 2002-06-01
• DOI: 10.1210/jc.87.6.2606
• EISSN: 1945-7197
• ISSN: 0021-972X
• Language: English
• Keywords: Polycystic Ovary Syndrome; Adult; Genetic Predisposition to Disease; Quantitative Trait, Heritable; Humans; Diabetes Mellitus, Type 2; Calpain; Case-Control Studies; Genetic Variation; Female; Chromosome Mapping