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

Giovanni Delli Carpini, Luca Giannella, Jacopo Di Giuseppe, Nina Montik, Michele Montanari, Mariasole Fichera, Daniele Crescenzi, Carolina Marzocchini, Maria Liberata Meccariello, Donato Di Biase, Arianna Vignini, Andrea Ciavattini
International journal of molecular sciences · 2023 · vol. 24(20) , pp. 15404 · doi:10.3390/ijms242015404 · PMID:37895084 · W4387822866
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This case–control study found that the homozygous C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism is a risk factor for endometriosis, with an adjusted odds ratio of 1.889.

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Abstract

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.

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Endometriosis Endometriosis Endometriosis Endometriosis Polymorphism, Single Nucleotide Polymorphism, Single Nucleotide Polymorphism, Single Nucleotide Case-Control Studies Case-Control Studies Case-Control Studies Female Female Female Genetic Predisposition to Disease Genetic Predisposition to Disease Genetic Predisposition to Disease Genotype Genotype Genotype Humans

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