Single nucleotide polymorphism C677T in the methylenetetrahydrofolate reductase gene might be a genetic risk factor for infertility for Chinese men with azoospermia or severe oligozoospermia.
OBJECTIVE
To analyze the distribution of the single nucleotide polymorphism (SNP) C677T in the methylenetetrahydrofolate reductase (MTHFR) gene in 355 infertile Chinese patients with idiopathic azoospermia or severe oligozoospermia and 252 fertile Chinese men as controls to explore the possible association of the SNP and male infertility.


METHODS
Using the polymerase chain reaction (PCR)-restriction fragment length polymorphism technique, the allele and genotype distribution of SNP C677T in the MTHFR gene were investigated in both patients and controls.


RESULTS
The frequencies of allele T (40.9% vs 30.4%, P = 0.002, odds ration [OR] = 1.58, 95% confidence interval [CI]: 1.24-2.02) and mutant homozygote (TT) (18.3% vs. 11.5%, P=0.023, OR=1.72, 95% CI: 1.07-2.76) as well as carrier with allele (TT + CT) (63.4% vs. 49.2%, P = 0.0005, OR = 1.79, 95% CI: 1.29-2.48) in infertile patients were significantly higher than those in controls. After patient stratification, the significant differences in distribution of the SNP between each patient subgroup and control group still remained.


CONCLUSIONS
Our findings indicate that there is an association of SNP C677T in the MTHFR gene with male infertility, suggesting that this polymorphism might be a genetic risk factor for male infertility in Chinese men.
A
Zhou-Cun
ZC
Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu 610041, China.
Yang
Yuan
Y
Zhang
Si-Zhong
SZ
Li
Na
N
Zhang
Wei
W
D000328:Adult; D053713:Azoospermia / Q000201:enzymology / Q000235:genetics*; D001483:Base Sequence; D002681:China / Q000453:epidemiology; D017931:DNA Primers; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007248:Infertility, Male / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009845:Oligospermia / Q000201:enzymology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012016:Reference Values; D012307:Risk Factors
D017931:DNA Primers; D042965:Methylenetetrahydrofolate Reductase (NADPH2)