• PMID: 22457816
• Gene Name: MTHFR
• Condition: Unexplained severe male infertility
• Association: The data indicated a lack of association of the C677T variant with infertility.
• Mutation: MTHFR C677T , A1298C variants
• Population size: 961
• Population details: 961 (344 men with unexplained reduced sperm counts, 617 ancestry-matched fertile or normozoospermic controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Unexplained severe male infertility

Association of the MTHFR A1298C variant with unexplained severe male infertility

Eloualid A, Abidi O, Charif M, El Houate B, Benrahma H, Louanjli N, Chadli E, Ajjemami M, Barakat A, Bashamboo A, McElreavey K, Rhaissi H, Rouba H.

The methylenetetrahydrofolate reductase (MTHFR) gene is one of the main regulatory enzymes involved in folate metabolism, DNA synthesis and remethylation reactions. The influence of MTHFR variants on male infertility is not completely understood. The objective of this study was to analyze the distribution of the MTHFR C677T and A1298C variants using PCR-Restriction Fragment Length Polymorphism (RFLP) in a case group consisting of 344 men with unexplained reduced sperm counts compared to 617 ancestry-matched fertile or normozoospermic controls. The Chi square test was used to analyze the genotype distributions of MTHFR polymorphisms. Our data indicated a lack of association of the C677T variant with infertility. However, the homozygous (C/C) A1298C polymorphism of the MTHFR gene was present at a statistically high significance in severe oligozoospermia group compared with controls (OR = 3.372, 95% confidence interval CI = 1.27-8.238; p = 0.01431). The genotype distribution of the A1298C variants showed significant deviation from the expected Hardy-Weinberg equilibrium, suggesting that purifying selection may be acting on the 1298CC genotype. Further studies are necessary to determine the influence of the environment, especially the consumption of diet folate on sperm counts of men with different MTHFR variants. FAU - Eloualid, Abdelmajid AU - Eloualid A AD - Human Genetic Unit, Research Department, Pasteur Institute, Casablanca, Morocco. abdelmajideloualid@yahoo.fr FAU - Abidi, Omar AU - Abidi O FAU - Charif, Majida AU - Charif M FAU - El Houate, Brahim AU - El Houate B FAU - Benrahma, Houda AU - Benrahma H FAU - Louanjli, Noureddine AU - Louanjli N FAU - Chadli, Elbakkay AU - Chadli E FAU - Ajjemami, Maria AU - Ajjemami M FAU - Barakat, Abdelhamid AU - Barakat A FAU - Bashamboo, Anu AU - Bashamboo A FAU - McElreavey, Ken AU - McElreavey K FAU - Rhaissi, Houria AU - Rhaissi H