Adenomyosis: genetics of estrogen metabolism
-
Natalia Artymuk
and
Lyudmila Gulyaeva
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.
Author Statement
Research funding: None declared.
Conflict of interest: The authors report no conflicts of interest.
Informed consent: Informed consent was obtained from all participants.
Ethical approval: The research related to human use complied with all the relevant national regulations and institutional policies and was performed in accordance with the tenets of the Helsinki Declaration and has been approved by the author’s institutional review board or equivalent committee.
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©2019 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Original Article
- Adenomyosis: genetics of estrogen metabolism
- Review Articles
- Impact of progestogens on hemostasis
- Choice of progestogen for endometrial protection in combination with transdermal estradiol in menopausal women
- Opinion Paper
- Endometriosis and the menopause: why the question merits our full attention
Articles in the same Issue
- Original Article
- Adenomyosis: genetics of estrogen metabolism
- Review Articles
- Impact of progestogens on hemostasis
- Choice of progestogen for endometrial protection in combination with transdermal estradiol in menopausal women
- Opinion Paper
- Endometriosis and the menopause: why the question merits our full attention
