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目的:研究HIWI2基因rs508485多态性与男性特发性少精症的相关性。方法:选取特发性轻度少精症患者72例及重度少精症患者70例,精液浓度正常男性70例作为对照。提取外周血DNA扩增后采用DNA测序方法检测HIWI2rs508485序列,采用相关回归分析不同基因型与特发性少精症的相关性。结果:对照组中HIWI2rs508485CC型有35例,占55.7%,轻度少精症组CC型有28例,占38.9%,突变型44例,占61.1%,排除年龄、吸烟等相关因素,与对照组相比差异有显著性(OR=1.98,95%CI:1.01-3.98,P=0.0462)。重度少精症CC型占34.4%,突变型占65.6%,与对照组相比差异有显著性(OR=2.40,95%CI:1.18-4.87,P<0.01),结论:HIWI2rs508485的单核苷酸多态性可能与男性特发性少精症相关。
Objective: To investigate the association between rs508485 polymorphism of HIWI2 gene and idiopathic oligozoospermia in males. Methods: Seventy-two patients with idiopathic mild oligozoospermia and 70 patients with severe oligozoospermia were enrolled, and 70 normal semen samples were used as control. The peripheral blood DNA was extracted and the sequence of HIWI2 rs508485 was detected by DNA sequencing. The correlation between different genotypes and idiopathic oligozoospermia was analyzed by regression analysis. Results: There were 35 cases (55.7%) of HIWI2rs508485CC type in control group, 28 cases (38.9%) of CC genotype in mild oligozoospermia group, 44 cases of mutation type (61.1%), excluding age, smoking and other related factors There were significant differences between groups (OR = 1.98, 95% CI: 1.01-3.98, P = 0.0462). CC genotype accounted for 34.4% of severe oligozoospermia, mutation accounted for 65.6%, compared with the control group, the difference was significant (OR = 2.40,95% CI: 1.18-4.87, P <0.01) Conclusion: HIWI2rs508485 mononucleoside Acid polymorphism may be associated with idiopathic oligozoospermia.