• PMID: 20369554
• Gene Name: XPC
• Condition: Male infertility
• Association: 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.
• Mutation: Ala499Val (C > T) and Lys939Gln (A > C) of the XPC gene
• Population size: 546
• Population details: 546 (318 infertile patients and 228 fertile male controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

[Ala499Val (C > T) and Lys939Gln (A > C) polymorphisms of the XPC gene: their correlation with male infertility]

Liang J, Lu CC, Gu AH, Xia YK, Lü ZM, Xu J, Shi GY, Wang MS, Wang XR.

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. CONCLUSION: 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. FAU - Liang, Jie AU - Liang J AD - Institute for Toxicology and Function Assessment, Jiangsu Provincial Center for Disease Prevention and Control, Nanjing, Jiangsu 210009, China. FAU - Lu, Chun-cheng AU - Lu CC FAU - Gu, Ai-hua AU - Gu AH FAU - Xia, Yan-kai AU - Xia YK FAU - Lü, Zhong-ming AU - Lü ZM FAU - Xu, Jun AU - Xu J FAU - Shi, Gen-yong AU - Shi GY FAU - Wang, Min-sheng AU - Wang MS