Homozygous C677T Methylenetetrahydrofolate Reductase (MTHFR) Polymorphism as a Risk Factor for Endometriosis: A Retrospective Case–Control Study

This study was conducted to evaluate the role of methylenetetrahydrofolate reductase (MTHFR) C677T homozygous polymorphism as a risk factor for endometriosis. A retrospective case–control study was conducted from January 2020 to December 2022 on all patients attending the gynecological outpatient cl...

Full description

Saved in:
Bibliographic Details
Published in:International journal of molecular sciences 2023-10, Vol.24 (20), p.15404
Main Authors: Delli Carpini, Giovanni, Giannella, Luca, Di Giuseppe, Jacopo, Montik, Nina, Montanari, Michele, Fichera, Mariasole, Crescenzi, Daniele, Marzocchini, Carolina, Meccariello, Maria Liberata, Di Biase, Donato, Vignini, Arianna, Ciavattini, Andrea
Format: Article
Language:English
Subjects:
Alcohol use
Antioxidants
Cesarean section
Clinics
DNA methylation
Endometriosis
endometriosis risk factors
epigenetic
Epigenetic inheritance
Epigenetics
Estrogens
Genes
Genetic aspects
Genetic testing
Homocysteine
Infertility
Menstruation
Metabolism
Methylation
MTHFR
Ovaries
Oxidative stress
Pathogenesis
Polymorphism
Pregnancy
Regression analysis
Risk factors
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:This study was conducted to evaluate the role of methylenetetrahydrofolate reductase (MTHFR) C677T homozygous polymorphism as a risk factor for endometriosis. A retrospective case–control study was conducted from January 2020 to December 2022 on all patients attending the gynecological outpatient clinic of our institution who had performed an MTHFR polymorphisms test. Patients with endometriosis were considered cases, while those without endometriosis were considered controls. The presence of an MTHFR C677T homozygous polymorphism was defined as exposure. Risk factors for endometriosis were considered confounders in a binomial logistic regression, with endometriosis diagnosis as the dependent variable. Among the 409 included patients, 106 (25.9%) cases and 303 (74.1%) controls were identified. A higher rate of MTHFR C677T homozygous polymorphism was found in patients with endometriosis (24.5% vs. 15.8%, p = 0.0453), with an adOR of 1.889 (95% CI 1.076–3.318, p = 0.0269) at the binomial logistic regression. A history of no previous pregnancy was associated with an endometriosis diagnosis (adOR 2.191, 95% CI 1.295–3.708, p = 0.0035). An MTHFR C677T homozygous polymorphism could be considered a risk factor for endometriosis. Epigenetic modifications may be the most important mechanism explaining the observed association through the processes of altered DNA methylation and reduced activity of antioxidant systems.
ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms242015404