[Association analysis of SNP-63 and indel-19 variant in the calpain-10 gene with polycystic ovary syndrome in women of reproductive age].

Abstract Background Polycystic ovary syndrome is a complex and heterogeneous disease leading to reproductive, as well as metabolic problems. It has been suggested that there may be a genetic predisposition in the aetiology of polycystic ovary syndrome. The identification of calpain 10 gene (CAPN10) as the first candidate gene for type 2 diabetes mellitus has focused the interest in investigating their possible connection with the polycystic ovary syndrome. This syndrome is associated with hyperinsulinaemia and insulin resistance, two metabolic abnormalities associated with type 2 diabetes mellitus. Objective To investigate if there is association between the SNP-63 and the genetic variant indel-19 of CAPN10 gene and polycystic ovary syndrome in women of reproductive age. Material and methods This study included 101 women (55 with polycystic ovary syndrome and 46 without polycystic ovary syndrome). The genetic variant indel-19 was identified by electrophoresis of the amplified fragments by PCR, and the SNP-63 by PCR-RFLP. Results The allele and genotype frequencies of the two variants do not differ significantly between women with polycystic ovary syndrome and the control women group. The haplotype 21 (defined by the insertion allele of indel-19 variant and C allele of SNP-63) was found with higher frequency in both study groups, being more frequent in the polycystic ovary syndrome patients group, however, this difference was not statistically significant. Conclusions The results suggest that SNP-63 and indel-19 variant of CAPN10 gene do not represent a risk factor for polycystic ovary syndrome in our patient group.