Publication:

Association of calpain 10 gene UCSNP-43 polymorphism (rs3792267) with polycystic ovarian syndrome

Background The principle features of polycystic ovarian syndrome (PCOS) are insulin resistance (IR), hyperandrogenism (HA), obesity (Ob), oligo/anovulation and polycystic ovaries (PCO). PCOS is known to be associated with increased risk of type-2 diabetes mellitus (T2DM) and genes related to T2DM may also play a role in PCOS pathogenesis. Our aim is to study the association of CAPN-10 gene UCSNP-43 (rs3792267) polymorphism with PCOS.

Methods Case-control study, involved 204 women with PCOS and 204 healthy, sex and age matched controls. Anthropometric and biochemical profile were taken in a well designed proforma. Isolation of deoxyribonucleic acid (DNA), and genotype analysis was done for all the study population using PCR-RFLP.

Results No significant difference in allele and genotype frequencies of the CAPN-10, UCSNP- 43 (rs3792267) gene polymorphism were seen between the cases and controls. Frequency of A allele was 0.15 in PCOS and 0.19 in controls (OR 0.7207, CI 0.5 to 1.039 and p value 0.0793), indicates that the A allele is not associated with PCOS in our population, and show equal distribution of genotypes in PCOS patients and controls. The AA genotype conferred lack of association for developing PCOS (OR 0.4925, CI 0.1215 to 1.9968 and p value 0.3214). But the AA genotype showed elevated body mass index, waist to hip ratio, insulin resistance, triglyceride levels and decreased high density lipoprotein levels when compared to AG and GG genotypes of PCOS patients with controls.

Conclusions In conclusion, there is no disease risk association of CAPN-10 gene UCSNP-43 (rs3792267) polymorphism with PCOS.