Department of Pathology, Medical School, Xi'an Jiaotong University, Xi'an 710061, China.
Reprod Biomed Online. 2012 Oct;25(4):402-7. doi: 10.1016/j.rbmo.2012.06.014. Epub 2012 Jul 4.
X-ray repair cross-complementing group 1 (XRCC1) is a scaffold protein that plays a critical role in DNA base excision repair. To explore the association between XRCC1 single-nucleotide polymorphisms and infertility with idiopathic azoospermia in a northern Chinese Han population, PCR restriction fragment length polymorphism was used to genotype a SNP locus (rs25487) of XRCC1 in 112 patients with idiopathic azoospermia and 156 healthy controls. Furthermore, nucleotide sequences were sequenced. The results showed that, compared with GG genotype, the GA and GA+AA genotypes showed a significant association with an increased risk of idiopathic azoospermia (OR 2.119, 95% CI 1.245-3.606, P=0.005), (OR 2.052, 95% CI 1.227-3.431, P=0.006) respectively. Meanwhile, the A allele frequency was significantly higher in azoospermic patients than that in controls (OR 1.472, 95% CI 1.029-2.105, P=0.034). The substitutions bring about an amino acid alteration: G→A changes the arginine residue into glutamine. In conclusion, the SNP locus rs25487 of XRCC1 could be a marker for genetic susceptibility to idiopathic azoospermia and the A allele might be a risk gene of idiopathic azoospermia in the northern Chinese Han population.
X 射线修复交叉互补组 1（XRCC1）是一种支架蛋白，在 DNA 碱基切除修复中起着关键作用。为了探讨 XRCC1 单核苷酸多态性与特发性无精子症不育的关系，我们在中国北方汉族人群中，应用聚合酶链反应-限制性片段长度多态性方法对 112 例特发性无精子症患者和 156 例健康对照者的 XRCC1 单核苷酸多态性（rs25487）进行基因分型，并对核苷酸序列进行测序。结果显示，与 GG 基因型相比，GA 和 GA+AA 基因型与特发性无精子症的发病风险增加显著相关（OR 2.119，95%CI 1.245-3.606，P=0.005），（OR 2.052，95%CI 1.227-3.431，P=0.006）。同时，无精子症患者的 A 等位基因频率明显高于对照组（OR 1.472，95%CI 1.029-2.105，P=0.034）。这种取代导致了氨基酸的改变：G→A 将精氨酸残基变为谷氨酰胺。总之，XRCC1 的 SNP 位点 rs25487 可能是特发性无精子症遗传易感性的标志物，A 等位基因可能是中国北方汉族人群特发性无精子症的风险基因。
