title: MTHFR C677T polymorphism associates with unexplained infertile male factors.
abstract: OBJECTIVE
  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.
authors.affiliation: Functional Genomics Lab, Graduate School of Life Science and Biotechnology, CHA Research Institute, College of Medicine, Pochon CHA University, Bundang Campus, Seoul, Korea.
authors.forename: Jung Hoon
authors.initials: JH
authors.lastname: Park
authors.forename: Han Chul
authors.initials: HC
authors.lastname: Lee
authors.forename: Yu-Mi
authors.initials: YM
authors.lastname: Jeong
authors.forename: Tae-Gyu
authors.initials: TG
authors.lastname: Chung
authors.forename: Hyun-Joo
authors.initials: HJ
authors.lastname: Kim
authors.forename: Nam Keun
authors.initials: NK
authors.lastname: Kim
authors.forename: Sook-Hwan
authors.initials: SH
authors.lastname: Lee
authors.forename: Suman
authors.initials: S
authors.lastname: Lee
mesh_terms: D041322:Chromosomes, Human, Y / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)