Polymorphism of the CYP11A1, CYP17A1, and CYP19A1 genes in reproductive-aged women with polycystic ovary syndrome


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Abstract

Objective. To investigate the polymorphism of the CYP11A1, CYP17A1, and CYP19A1 genes in reproductive-aged women with polycystic ovary syndrome (PCOS) versus those without the latter. Subjects and methods. The investigation enrolled 188 reproductive-aged women. Group 1 consisted of 94 women with PCOS; Group 2 included 94 women without PCOS. All the patients underwent molecular genetic analysis of SNP polymorphisms of the VNTR genes of the pentanucleotide ((tttta)n) polymorphism at position -528 of the CYP11A and CYP17A1 gene promoter region (-34T > C (MspA1), rs743572) and CYP19A1 (c.-39+15658 C>T, C40824T, rs2470152) using the test system made by the OOO SibDNA (Novosibirsk). The amplification reaction was carried out using a CFX96 real-time PCR detection system (Bio-Rad, USA), followed by statistical data processing. Results. The frequency distribution of CYP11A1 (tttta)n genotypes, CYP17A1 rs743572 and CYP19A1 rs2470152 genes did not statistically significantly differ in PCOS and healthy women (p > 0.05). However, the CYP11A1 (tttta)n polymorphism tended to accumulate alleles with a larger number of (tttta)n repeats in PCOS women than in healthy ones. The VNTR genotypes with 6/6, 6/8, and 8/8pentanucleotide repeats were typical. Conclusion. The genetic factor did not seem to play a key role in the development of PCOS in the examined women. This study may be useful for subsequent meta-analyses that can reveal insights into the pathogenesis of the disease.

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About the authors

Angelika Yu. Beglova

Kemerovo .State Medical University

Email: angelik-l986@mail.ru

Svetlana I. Elgina

Kemerovo .State Medical University

Email: elginas.i@mail.ru

Lydmila A. Gordeeva

Institute for Human Ecology, Federal Research Center for Coal and Coal Chemistry, Siberian Branch, Russian Academy of Sciences

Email: gorsib@rambler.ru

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