The relationship between methylenetetrahydrofolate reductase c.677TT genotype and oligozoospermia in infertile male patients living in the Trakya region of Turkey

Abstract

Methylenetetrahydrofolate reductase (MTHFR), the key enzyme of the folate metabolic pathway, has been reported to be five times more active in the testicles compared to other organs in adult mice. The aim of this study was to investigate the relationship between MTHFR c.677C>T and c.1298A>C polymorphisms and infertility in nonobstructive azoospermic and oligozoospermic male patients living in the Trakya region of Turkey. The study population included 75 nonobstructive azoospermic and 62 oligozoospermic, nonconsanguineous patients who were referred to the Department of Medical Genetics of Trakya University between 01.03.2012 and 01.06.2013 due to infertility and who had been diagnosed based on clinical examinations and spermiograms. All of the patients had a normal karyotype without a Y chromosome microdeletion. Melting curve analysis with labelled probes and primers that were designed by the manufacturers and the real-time polymerase chain reaction method were used. The MTHFR c.677TT genotype frequency in the oligozoospermic infertile male patient group was greater than that of the fertile control group [odds ratio (OR) = 2.675 (95% CI: 0.979-7.305), (P < 0.048)]. The MTHFR c.677TT genotype may be a genetic risk factor for oligozoospermic infertile male patients who live in the Trakya region of Turkey.

MTHFR C677T, A1298C and MS A2756G Gene Polymorphisms and Male Infertility Risk in a Chinese Population: A Meta-Analysis

“…The mechanisms of pathogenesis may involve changes of enzyme structure and mRNA properties that are due to these folate-related enzymes gene polymorphisms[28]. Recent studies have revealed that folate-related enzyme gene polymorphisms were associated with an increased risk of male infertility, particularly in the case of MTHFR gene polymorphisms[1, 29, 30]. Although many studies have reported associations between MTHFR and MS gene polymorphisms and male infertility risk[14, 31], no meta-analysis to date has comprehensively evaluated the relationships of MTHFR and MS gene polymorphisms with male infertility risk in the Chinese population.…”

“…Infertility is defined as the failure of a couple to achieve pregnancy after one year of unprotected, regular sexual intercourse, which affects approximately 15% of all couples attempting to conceive a child[1, 2]. In addition to environmental and lifestyle risk factors, genetic causes, such as chromosomal aberrations and single gene mutations, also play important roles in male infertility.…”

Association between MTHFR A1298C polymorphism and male infertility: A meta-analysis

“…One article [29] had a NOS score lower than five due to the inclusion of selection biases for cases or controls and the lack of adjustment for potential confounders. Two additional eligible studies [30,31] were identified by searching the references of original articles and review articles. In total, 20 articles [11,[30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48] involving 4293 cases and 4507 controls were included in this meta-analysis based on the inclusion and exclusion criteria.…”

Aryl hydrocarbon receptor rs2066853 gene polymorphisms and male infertility risk: a meta-analysis

“…Infertility is a worldwide health problem, which affects an estimated 15% of all couples trying to conceive a child [1,2]. Approximately half of all infertility cases caused by factors related to the male partner [3].…”