MTHFR C677T polymorphism associates with unexplained infertile male factors.
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.
Park
Jung Hoon
JH
Functional Genomics Lab, Graduate School of Life Science and Biotechnology, CHA Research Institute, College of Medicine, Pochon CHA University, Bundang Campus, Seoul, Korea.
Lee
Han Chul
HC
Jeong
Yu-Mi
YM
Chung
Tae-Gyu
TG
Kim
Hyun-Joo
HJ
Kim
Nam Keun
NK
Lee
Sook-Hwan
SH
Lee
Suman
S
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
D042965:Methylenetetrahydrofolate Reductase (NADPH2)