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- 2016
XRCC1基因rs25487位点多态性与陕西回族男性人群非梗阻性无精症的相关性
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Abstract:
摘要：目的 探讨X线修复交叉互补(XRCC1)基因rs25487位点多态性在陕西回族非梗阻性无精症人群中的分布及其与非梗阻性无精症发病风险的关联。方法 采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测79例陕西回族非梗阻性无精症患者和82例陕西回族正常对照男性人群XRCC1基因rs25487位点的基因分型和等位基因频率，分析其与非梗阻性无精症发病的相关性。结果 与GG基因型的个体相比，携带GA基因型的个体患非梗阻性无精症的风险是携带GG基因型个体的2.286倍；携带AA基因型的个体患非梗阻性无精症的风险是GG基因型个体的2.202倍；携带GA+AA基因型的个体患非梗阻性无精症的风险是GG基因型的2.271倍。与G等位基因相比，携带A等位基因的个体患非梗阻性无精症的风险是G基因的1.158倍。结论 XRCC1基因rs25487位点G→A与陕西回族人群非梗阻性无精症发病风险存在关联。
ABSTRACT: Objective To explore the association between X-ray repair cross complementing group 1 (XRCC1) gene rs25487 locus polymorphisms and nonobstructive azoospermia in Hui minority ethic population of Shaanxi Province. Methods We used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method for genotyping at XRCC1 gene rs25487 locus in 79 patients with nonobstructive azoospermia and 82 healthy male controls in Hui minority ethic population of Shaanxi Province. Then we analyzed the association between XRCC1 gene rs25487 locus and nonobstructive azoospermia. Results Compared with GG genotype, GA, AA and GA+AA genotypes demonstrated a significantly increased risk for nonobstructive azoospermia (OR=2.286, 95% CI 1.151-4.539; OR=2.202, 95% CI 0.753-6.439; OR=2.271, 95% CI 1.171-4.403), respectively. Meanwhile, the A allele frequency was significantly higher in azoospermic patients than in controls (OR=1.582, 95% CI 1.005-2.492, P=0.047). Conclusion G→A in XRCC1 gene rs25487 locus is correlated with nonobstructive azoospermia in Hui minority ethic population of Shaanxi province
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