• PMID: 17968463
• Gene Name: XRCC1
• Condition: Idiopathic azoospermia
• Association: In a selected Chinese population, AA genotype of Arg399Gln appears to contribute to a decreased risk of idiopathic azoospermia, while we have not any evidence of involvement of XRCC1 T-77C and Arg194Trp polymorphisms in idiopathic azoospermia.
• Mutation: XRCC1 T-77C and Arg194Trp, AA genotype of Arg399Gln
• Population size: 418
• Population details: 418 (171 idiopathic azoospermia subjects, 247 normal-spermatogenesis controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Idiopathic azoospermia

Association of XRCC1 gene polymorphisms with idiopathic azoospermia in a Chinese population

Gu AH, Liang J, Lu NX, Wu B, Xia YK, Lu CC, Song L, Wang SL, Wang XR.

AIM: To assess the possible role of genetic polymorphisms in DNA repair gene XRCC1 (X-ray repair cross-complementing group 1) during spermatogenesis by investigating the associations of one promoter polymorphism (T-77C) and two exonic polymorphisms (Arg194Trp and Arg399Gln) in XRCC1 gene with risk of idiopathic azoospermia in a Chinese population. METHODS: The genotype and allele frequencies of three observed polymorphisms were examined by polymerase chain reaction-restriction fragment length polymorphism based on a Chinese population consisting of 171 idiopathic azoospermia subjects and 247 normal-spermatogenesis controls. RESULTS: In our study, all the observed genotype frequencies were in agreement with Hardy-Weinberg equilibrium. The 399A (GA+AA) allele frequency for idiopathic azoospermia subjects and controls was 0.216 and 0.269, respectively. Compared with GG genotype, the AA genotype of Arg399Gln showed a significant association with a decreased risk of idiopathic azoospermia (odds ratio = 0.315; 95% confidence interval = 0.12-0.86). However, no significant differences were found between the cases and controls for T-77C and Arg194Trp polymorphisms. The major haplotypes of XRCC1 gene were TCG, TTG and TCA, whereas no haplotypes appeared to be significantly associated with idiopathic azoospermia based on the cutoff of P < 0.05. CONCLUSION: In a selected Chinese population, AA genotype of Arg399Gln appears to contribute to a decreased risk of idiopathic azoospermia, while we have not any evidence of involvement of XRCC1 T-77C and Arg194Trp polymorphisms in idiopathic azoospermia. FAU - Gu, Ai-Hua AU - Gu AH AD - Jiangsu Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China. FAU - Liang, Jie AU - Liang J FAU - Lu, Ning-Xia AU - Lu NX FAU - Wu, Bin AU - Wu B FAU - Xia, Yan-Kai AU - Xia YK FAU - Lu, Chun-Cheng AU - Lu CC FAU - Song, Lin AU - Song L FAU - Wang, Shou-Lin AU - Wang SL