• PMID: 16247718
• Gene Name: MTHFR
• Condition: Male infertility, severe OAT, non-obstructive azoospermia in unexplained infertile males
• Association: Associated
• Mutation: MTHFR (C677T, A1298C)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: MTHFR
• Other associated phenotypes: Male infertility, severe OAT, non-obstructive azoospermia in unexplained infertile males

MTHFR C677T polymorphism associates with unexplained infertile male factors

Park JH, Lee HC, Jeong YM, Chung TG, Kim HJ, Kim NK, Lee SH, Lee S.

PURPOSE: To determine whether 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) genotype is associated with male infertility. METHODS: Analysis of cytogenetic, Y chromosomal microdeletion assay (Yq), and the C677T and A1298C polymorphisms of the MTHFR gene by pyrosequencing and PCR-Restriction Fragment Length Polymorphism (RFLP) method. SAS 8.1 assessed the statistical risk of MTHFR genotype. RESULTS: The homozygous (T/T) C677T polymorphism of the MTHFR gene was present at a statistically high significance in unexplained infertile men with normal karyotype, instead at no significance in explained infertile men with chromosomal abnormality or Y chromosome deletion. There was no statistically significance of A1298C variation in infertile males. CONCLUSIONS: The MTHFR 677TT genotype may be a genetic risk factor for male infertility, especially with severe OAT and non-obstructive azoospermia in unexplained infertile males. FAU - Park, Jung Hoon AU - Park JH AD - Functional Genomics Lab, Graduate School of Life Science and Biotechnology, CHA Research Institute, College of Medicine, Pochon CHA University, Bundang Campus, Seoul, Korea. FAU - Lee, Han Chul AU - Lee HC FAU - Jeong, Yu-Mi AU - Jeong YM FAU - Chung, Tae-Gyu AU - Chung TG FAU - Kim, Hyun-Joo AU - Kim HJ FAU - Kim, Nam Keun AU - Kim NK FAU - Lee, Sook-Hwan AU - Lee SH