Korean J Fertil Steril.  2003 Dec;30(4):325-331.

Genetic analysis for Polymorphism of 5, 10-Methylenetetrahydrofolate Reductase (MTHFR) A1298C and Infertile Males in Korea

• Jeong YM
• Chung TG
• Kim HJ
• Lee SH
• Park JH
• Kim NK
• Kim SH
• Cha KY
• Lee S

Abstract

OBJECTIVE
To investigate the association of genetic background between MTHFR A1298C genotype and male infertility.
MATERIALS AND METHODS
We compared 377 infertile males with 396 healthy fertile males with one or more offspring. Infertile males were classified into four subtypes (281 azoospermia, 26 oligoasthenoteratozoospermia (OAT), 59 severe OAT and 11 remnants) by World Health Organization (WHO). Pyrosequencing analysis for MTHFR (methylenetetrahydrofolatereductase) A1298C variation was performed on polymerase chain reaction (PCR) product of study group. To validate pyrosequencing data of A1298C variation for randomly selected 50 samples, we compared the pyrosequencing result with the PCR-RFLP (Restriction Fragment Length Polymorphism) result of MTHFR A1298C genotype.
RESULTS
We studied MTHFR A1298C variation by pyrosequencing. A1298C variation data (1298 AC; p=0.2166 and 1298 CC; p=0.5056) of MTHFR gene was no significant difference in between fertile and infertile males.
CONCLUSION
The genetic analysis in MTHFR gene didn't appear genetic difference in Korean fertile and infertile males. We require further study for MTHFR gene in infertile males.

Keyword

Male infertility; MTHFR; Pyrosequencing

MeSH Terms

Avena
Azoospermia
Genotype
Humans
Infertility, Male
Korea*
Male*
Oxidoreductases*
Polymerase Chain Reaction
World Health Organization
Oxidoreductases