• PMID: 14594111
• Gene Name: MTHFR
• Condition: Male infertility
• Association: Associated
• Mutation: MTHFR 677T allele
• Population size: 198
• Population details: 198 (93 infertile patients, 105 fertile controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: MTHFR
• Other associated phenotypes: Male infertility

The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in Italy

Stuppia L, Gatta V, Scarciolla O, Colosimo A, Guanciali-Franchi P, Calabrese G, Palka G.

The 677T allele of the MTHFR gene has been suggested to represent a factor of risk for male infertility. In order to confirm this association, we investigated the presence of the 677T allele in 93 Italian infertile patients, selected after the exclusion of other possible genetic causes of infertility, and in 105 Italian fertile controls. The homozygous 677TT genotype was present in 20.4% of patients and 27.6% of controls. These results do not support an association between the MTHFR 677T allele and male infertility in Italy. FAU - Stuppia, L AU - Stuppia L AD - Department of Biomedical Sciences, G. D'Annunzio University, Chieti, Italy. FAU - Gatta, V AU - Gatta V FAU - Scarciolla, O AU - Scarciolla O FAU - Colosimo, A AU - Colosimo A FAU - Guanciali-Franchi, P AU - Guanciali-Franchi P FAU - Calabrese, G AU - Calabrese G