Methyltetrahydrofolate reductase (MTHFR) is one of the most important enzyme in human physiology, and its deficiencies in production or function have been associated with increased risk in pregnancy and other human diseases. MTHFR polymorphism is one of the main area of current research.
In the recent months, new several publications have investigated the potential effects of the MTHFR enzyme polymorphism on folate metabolism and its association with increased risk of congenital malformations, degenerative diseases and decreasing health and wellbeing in old age.
Population with MTHFR gene variation partially metabolize folic acid and food folate to the active form 5-MTHF and is not able to maintain an adequate folate status during all life stages.
Notable, two different meta-analysis correlated the polymorphism with risk of male infertility:
-Hong at al. took in consideration a total of 15 studies with 3853 patients with infertility and 3613 healthy controls. Results showed that T variant of MTHFR C677T gene polymorphism was significantly associated with an increased risk of male infertility
-Zhang et al. included a total of 20 studies with 4293 cases and 4507 controls found that the A variant of MTHFR A1298C may be a potential risk factor for male infertility, especially in the Asian population.
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Hong at al. “Associations of C677T polymorphism in methylenetetrahydrofolate reductase (MTHFR) gene with male infertility risk: A meta-analysis” Eur J Obstet Gynecol Reprod Biol. 2017
Zhang et al “Association between MTHFR A1298C polymorphism and male infertility: A meta-analysis.” J Huazhong Univ Sci Technolog Med Sci. 2017