TY - JOUR

T1 - Adenomyosis

T2 - Genetics of estrogen metabolism

AU - Artymuk, Natalia

AU - Zotova, Olga

AU - Gulyaeva, Lyudmila

PY - 2019/3/15

Y1 - 2019/3/15

N2 - 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. 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. 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. 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.

AB - 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. 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. 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. 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.

KW - endometriosis

KW - polymorphism of genes of estrogen metabolism

KW - BREAST-CANCER

KW - POLYMORPHISMS

KW - HUMAN AROMATASE

KW - RISK

KW - ENDOMETRIOSIS

UR - http://www.scopus.com/inward/record.url?scp=85063473094&partnerID=8YFLogxK

U2 - 10.1515/hmbci-2018-0069

DO - 10.1515/hmbci-2018-0069

M3 - Article

C2 - 30878995

AN - SCOPUS:85063473094

VL - 37

JO - Hormone Molecular Biology and Clinical Investigation

JF - Hormone Molecular Biology and Clinical Investigation

SN - 1868-1883

IS - 2

M1 - 20180069

ER -