8-羟基鸟嘌呤糖苷酶Ser326Cys基因多态性与男性不育的相关性研究

目的:研究8-羟基鸟嘌呤糖苷酶(OGG1)Ser326Cys位点基因多态性与精液质量及男性不育发病风险的关系。方法:采用病例-对照研究方法,共收集620例原发性不育患者和385例正常生育男性对照,聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法鉴定基因型,精液质量分析采用CASA。结果:携带OGG1 326Cys/Cys(纯和突变型)的个体其精子活动率(52.1±26.7)%]、精子浓度(3.75±0.91)×106/ml,对数转换值)与携带Ser/Ser野生型的个体精子活动率(59.0±21.8)%;精子浓度(4.12±0.88)×106/ml,对数转换值]相比显著降低(P0.05);携带OGG1 326 Cys等位基因型的个体与携带Ser/Ser型的个体比较,其患男性不育的风险增加了69%(校正后OR=1.69,95%CI=1.24～2.31)。结论:OGG1 Ser326Cys基因多态性可能是中国南方汉族男性特发性不育的遗传易感因素之一。

Association of 8-hydroxyguanine glycosidase OGG1 Ser326Cys polymorphysm with male infertility

Objective： To explore the association of 8-hydroxyguanine glycosidase OGG1 Ser326Cys polymorphism with semen quality and the risk of male infertility. Methods： This case-control study included 620 idiopathic infertile patients and 385 normal fertile controls. We determined their genotypes by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） and analyzed their semen quality by computer-aided semen analysis （CASA）. Results ： The individuals with OGG1 326 Cys/Cys showed significantly lower sperm motility and concentration （ 52.1± 26.7 ] % and （ 3.75 ± 0.91 ） × 10^6/ml, In transformed value） than the Ser/Ser carriers （ 59.0 ±21.8] % and （4.12 ±0.88） × 10^6/ml, In transformed value） （P 〈0.05）. The risk of male infertility increased 69% in the OGG1 326Cys allele carriers as compared with the Ser carriers （ OR = 1.69, 95% CI： 1.24 - 2.31 ）. Conclusion： OGG1 326 Ser/Cys polymorphism might contribute to the risk of male infertility in the southern Chinese population.