Abstract

Aim. To study the polymorphisms of CYP11A1, CYP17A1, and CYP19A1 genes in women with polycystic ovary syndrome (PCOS) of reproductive age in comparison with women without PCOS.Materials and Methods. We consecutively recruited 94 women with polycystic ovary syndrome of reproductive age and 94 age-matched healthy women. All patients were subjected to molecular genetic analysis of pentanucleotide ((tttta)n) polymorphism at -528 position within the promoter region of the CYP11A1 gene, rs743572 polymorphism within the CYP17A1 gene, and rs2470152 polymorphism within the CYP19A1 gene. We further compared the frequencies of respective genotypes and alleles between the groups.Results. Genotype distribution of the indicated polymorphisms did not differ significantly between the groups. However, for CYP11A1 (tttta)n polymorphism, a trend to the accumulation of the alleles with a large number of (tttta)n-repeats was observed in women with polycystic ovary syndrome as compared to healthy women. The most common were VNTR genotypes with 6/6, 6/8 and 8/8 pentanucleotide repeats.Conclusion. The studied polymorphisms of cytochrome genes did not affect the risk of PCOS in the examined group of women. Our study may be useful for the further meta-analyses related to the genetic predisposition to PCOS.

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