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目的探讨人类8-羟基鸟嘌呤DNA糖苷酶(human 8-hydroxyguanine deoxyribonucleic acid glycosidase,hOGGl)基因rs1052133(Cys326Ser)及精子DNA完整性对原发性男性不育的影响。方法收集2011年8月至2012年12月间在宁夏医科大学总医院就诊的332例原发性男性不育患者和329例健康体检者分别作为病例组和对照组,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测两组人群hOGGl rs1052133基因型;采用精子染色质扩散实验(SCD)检测病例组和对照组精子DNA损伤程度。分析精子DNA完整性与精液参数的相关性以及hOGGl rs1052133不同基因型与原发性男性不育的相关性以及对精子DNA完整性的影响。结果原发性男性不育患者精子DNA碎片指数(DFI)高于对照组;原发性男性不育患者精子DFI与前向运动精子和非前向运动精子呈负相关(r=-035和-0.13,P<0.05),与不动精子呈正相关(r=0.24,P<0.05);携带hOGGl rs1052133CC基因型的个体患原发性少弱精子症的风险是携带GG型个体的1.93倍。rs1052133与吸烟和饮酒与原发性男性不育的发病风险无交互作用,同时该位点三种不同基因型的患者间精子DFI差异无统计学意义。结论原发性男性不育患者精子DNA完整性降低,并且精子DNA损伤可导致精液质量下降,是原发性男性不育的病因之一。hOGGl rs1052133CC基因型可能是原发性男性不育的危险因素,但该位点可能不影响精子DNA完整性。
Objective To investigate the effect of hOGGl gene rs1052133 (Cys326Ser) and sperm DNA integrity on primary male infertility in human. Methods A total of 332 primary male infertility patients and 329 healthy volunteers attending the General Hospital of Ningxia Medical University from August 2011 to December 2012 were selected as case group and control group respectively. Polymerase chain reaction-restriction The genotypes of hOGGl rs1052133 in two groups were detected by PCR-RFLP. The DNA damage of sperm was detected by using sperm chromatin diffusion test (SCD). The correlation between sperm DNA integrity and semen parameters and the association of different genotypes of hOGGl rs1052133 with idiopathic male infertility and their effect on sperm DNA integrity were analyzed. Results The sperm DNA fragmentation index (DFI) of primary male infertility patients was higher than that of control group. The sperm DFI of primary male infertility patients was negatively correlated with forward motility sperm and non-forward motility sperm (r = -035 and - 0.13, P <0.05), and positively correlated with immobilized sperm (r = 0.24, P <0.05). The individuals with hOGGl rs1052133CC genotype had a 1.93-fold risk of developing primary oligo-asthenospermia with GG-type individuals. There was no interaction between rs1052133 and the risk of smoking and alcohol drinking and primary male infertility, and there was no significant difference in sperm DFI among the three genotypes at this locus. Conclusion The sperm DNA integrity is decreased in patients with primary male infertility, and the sperm DNA damage can lead to the decline of sperm quality, which is one of the causes of primary male infertility. hOGGl rs1052133CC genotype may be a risk factor for primary male infertility, but this site may not affect sperm DNA integrity.