CAPN 10-19 (calcium-activated neutral proteinase 10 SNP 19) and CAPN 10-43 (calcium-activated neutral proteinase 10 snp 43) gene polymorphisms in polycystic ovary sendrome and their association to insulin resistance and clinical parameters

Polycystic ovary syndrome (PCOS) is a reproductive endocrinopathia characterized with chronic anovulation, olygoamenorhoea and hyperandrogenemia. It was suggested that this endocrinological disease is a consequence of the interaction of genetic and environmental factors. CAPN 10- 19 and CAPN 10- 43 gene polymorphisms are in close relationship with insulin resistance, obesity, dislipidemia and hyperandrogenizm, which are common findings of PCOS. The literature knowledge about the CAPN 10-19 and CAPN 10- 43 gene polymorphisms in PCOS women are limited and still controversial.The first aim of our study was to investigate the relationship between PCOS and CAPN 10-19 and CAPN 10-43 gene polymorphisms. Secondly, we wanted to investigate whether there is any relationship between genotypes and clinical/ laboratory findings of PCOS.We compared CAPN 10-19 and CAPN 10-43 genotypes and allele frequencies in 119 women with PCOS and 136 healthy subjects of comparable age and body mass index (BMI). The relationship of these genotypes with BMI, insulin resistance and lipid and hormone profile parameters were also investigated.The distribution of CAPN 10-19 genotype and allele frequency in control and PCOS groups were not significantly different. CAPN 10-43 gene polymorphism investigation shows that A allel frequency is higher in PCOS, and G allele frequency is higher in the control group. CAPN 10-19 polymorphism does not have any significant relation to BMI, insulin resistance or lipid or hormone profile parameters, however, CAPN 10-43 polymorphism in both control and PCOS groups was strongly associated with these parameters. Insulin resistance, cholesterol, HOMA(Homeostasis model assesment) and HOMA2 (Homeostasis model assesment 2) levels were higher in CAPN 10-43 genotyped PCOS women compared to GG and GA genotyped PCOS ones. When CAPN 10-43 AA genotyped controls and PCOS patients were compared, insulin resistance HOMA, HOMA2 and cholesterol levels were significantly increased in the PCOS groups.In conclusion, we found no evidence that the CAPN 10-19 gene polymorphism is associated with PCOS, while our results show that the CAPN 10-43 polymorphism is associated with PCOS and some metabolic disturbances of syndome.