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Background To analyze the allelic variants of genes of enzymes involved in estrogen metabolism: CYP1A1, CYP1A2, CYP19 and SULT1A1 using polymerase chain reaction-restriction fragment length polymorphism-restriction fragment length polymorphism (PCR-RFLP) analysis of women with histologically confirmed adenomyosis and women without proliferative diseases of pelvic organs was performed. We studied the following polymorphisms: CYP1A1 M1, T264 → C transition in the 3′-noncoding region; CYP1A2*1F, C734 → A transversion in CYP1A2 gene; C → T transition (Arg264Cys) in exon 7 of CYP19; SULT1A1*2, G638 → A transition (Arg213His) in the SULT1A1 gene. Materials and methods The study included 804 patients. Group I (experimental group) consisted of 268 women with adenomyosis. Inclusion criteria were: histological verification of adenomyosis, consent of patients to participate in the study. Group II (control group) – 536 women without proliferative diseases of the uterus. Inclusion criteria were: lack of proliferative processes of the uterus histologically confirmed by ultrasound examination, patient’s consent to participate in the study. Results We found the significant association of C allele, T/C and C/C genotypes of the CYP1A1 gene (CYP1A1 M1 polymorphism), A allele, C/A and A/A genotypes of the CYP1A2 gene (CYP1A2*1F polymorphism) and the T allele, C/T and C/C genotypes of the CYP19 (Arg264Cys polymorphism) gene with the risk for adenomyosis. Conclusions Patients with adenomyosis had increased frequency of C allele, T/C and C/C genotypes of the CYP1A1 gene, A allele, C/A and A/A genotypes of the CYP1A2 gene and T allele and C/T and C/C genotypes of the CYP19 gene and, on the contrary, decreased frequency of the mutant allele and heterozygous and mutant homozygous genotype of the CYP1A2 gene compared to women without proliferative diseases of the uterus.

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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.