Aim： To assess the possible role of genetic polymorphisms in DNA repair gene XRCC 1 （X-ray repair cross-comple- menting group l） during spermatogenesis by investigating the associations of one promoter polymorphism...Aim： To assess the possible role of genetic polymorphisms in DNA repair gene XRCC 1 （X-ray repair cross-comple- menting group l） during spermatogenesis by investigating the associations of one promoter polymorphism （T-77C） and two exonic polymorphisms （Argl94Trp 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, TrG 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. （Asian J Androl 2007 Nov; 9： 843-848）展开更多
基金Acknowledgment We thank Dr Guang-Fu Jin, Dr Jian-Tang Su, Dr Yu- Zhu Peng and Dr Yan Han for their participation. The present study was supported in part by the National 973 Project of China （No. 2002CB512908）, the National Natural Science Foundation of China （No. 30571582） and the National Tenth-Five Key Technologies R＆D Program of China （No. 2004BA720A33-02）.
文摘Aim： To assess the possible role of genetic polymorphisms in DNA repair gene XRCC 1 （X-ray repair cross-comple- menting group l） during spermatogenesis by investigating the associations of one promoter polymorphism （T-77C） and two exonic polymorphisms （Argl94Trp 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, TrG 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. （Asian J Androl 2007 Nov; 9： 843-848）
