Adenomyosis: genetics of estrogen metabolism

Natalia Artymuk, Н. В. Артымук, Olga Zotova, О. А. Зотова, L. F. Gulyaeva, Lyudmila Gulyaeva
Hormone molecular biology and clinical investigation · 2019 · vol. 37(2) · doi:10.1515/hmbci-2018-0069 · PMID:30878995 · W2922471223
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This study analyzed genetic variants in estrogen metabolism genes (CYP1A1, CYP1A2, CYP19, SULT1A1) and found associations between specific alleles and genotypes of CYP1A1, CYP1A2, and CYP19 with an increased risk of adenomyosis.

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Abstract

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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Condition tags

adenomyosis

MeSH descriptors

Adenomyosis Aromatase Cytochrome P-450 CYP1A1 Cytochrome P-450 CYP1A2 Polymorphism, Single Nucleotide Adenomyosis Adult Aged Aromatase Cytochrome P-450 CYP1A1 Cytochrome P-450 CYP1A2 Estrogens Estrogens Estrogens Female Humans Middle Aged

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