[Ala499Val (C > T) and Lys939Gln (A > C) polymorphisms of the XPC gene: their correlation with male infertility].
OBJECTIVE
The Ala499Val (C > T) and Lys939Gln (A > C) of the XPC gene are two potentially functional nonsynonymous polymorphisms, which affect the rate of DNA repair and might change XPC production and activity. This study aimed to explore the distribution of these two polymorphisms in the Chinese Han population and their relationship with male infertility.


METHODS
We genotyped the two polymorphisms of the XPC gene by the PCR-restriction fragment length polymorphism (PCR-RFLP) method in 318 infertile patients and 228 fertile male controls, detected the frequency of the alleles, and analyzed both the individual and the joint contribution of the two polymorphisms to male infertility.


RESULTS
For the Ala499Val (C > T) polymorphism, the frequencies of the CC, CT, and TT genotypes were significantly different in distribution between the patients and the controls (P = 0.020). Males with the TT genotype had a lower risk of male infertility than those with the CC genotype (adjusted OR = 0.49, 95% CI: 0.23-0.88), and even lower than those with both CC and CT genotypes (adjusted OR = 0.39, 95% CI: 0.22-0.71). The Lys939Gln (A > C) polymorphism was not related with male infertility. The combined genotype analysis showed that the individuals with 1-4 risk alleles had a significantly higher risk of male infertility (adjusted OR = 2.75, 95% CI = 1.50-5.04) than those with 0 risk allele.


CONCLUSIONS
The Ala499Val (C > T) polymorphism of the XPC gene is correlated with male infertility and may be a potential genetic risk factor for male infertility in the Chinese Han population.
Liang
Jie
J
Institute for Toxicology and Function Assessment, Jiangsu Provincial Center for Disease Prevention and Control, Nanjing, Jiangsu 210009, China.
Lu
Chun-cheng
CC
Gu
Ai-hua
AH
Xia
Yan-kai
YK
Lü
Zhong-ming
ZM
Xu
Jun
J
Shi
Gen-yong
GY
Wang
Min-sheng
MS
Wang
Xin-ru
XR
D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D004260:DNA Repair; D004268:DNA-Binding Proteins / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic; D012307:Risk Factors
D004268:DNA-Binding Proteins; C086984:XPC protein, human