目的:探讨内蒙古包头地区ESRα基因单核苷酸多态性rs9340799与汉族人群男性不育的关系。方法:选取少弱精病例组和正常对照组各200例样本,采用PCR-RFLP 法对ESRα基因rs9340799位点进行基因型分型,并采用二元Logistic回归分析rs9340799多态性与男性不育的关系,同时设计收集男性健康调查问卷和临床流行病学资料。结果:ESRα基因SNP rs9340799在显性和共显性遗传模型中与男性不育患病风险均相关(P＜0.05);两组研究对象的基因型和等位基因频率分布差异有统计学意义,携带G等位基因与男性不育疾病的患病风险降低相关(OR=0.198,95 %CI:0.119-0.330);另有精液分析结果得出少弱精病例组和对照组的年龄、前向运动精子、非前向运动精子、精子总浓度和精子总活力差异均有统计学意义(P＜0.05),问卷资料统计得出两组研究对象的室内外工作环境和家庭地板装修情况存在差异。结论:ESRα基因单核苷酸多态性rs9340799可能与内蒙古包头地区汉族人群男性不育患病风险相关。
Objective: To investigate the relationship between ESRα gene single nucleotide polymorphism rs9340799 and male infertility in Han population in Baotou, Inner Mongolia. Methods: The samples of oligoasthenospermia case group (n=200) and normal control group (n=200) were selected, and the genotype of ESRα gene rs9340799 locus was genotyped by PCR-RFLP method. The relationship between rs9340799 polymorphism and male infertility was analyzed by binary logistic regression. At the same time, male health questionnaire and clinical epidemiological data were designed and collected. Results: ESRα gene SNP rs9340799 was associated with the risk of male infertility in both dominant and codominant genetic models (P＜0.05). There were significant differences in genotype and allele frequency distribution between the two groups, suggesting that carrying the G allele was associated with a reduced risk of male infertility (OR=0.198, 95 %CI: 0.119-0.330). In addition, the results of semen analysis showed that there were statistically significant differences in age, forward moving sperm, non-forward moving sperm, total sperm concentration and total sperm motility between the oligoasthenospermia case group and the control group (P＜0.05). Questionnaire data statistics showed that there were differences in indoor and outdoor working environment and home floor decoration between the two groups. Questionnaire data statistics showed that there were differences in indoor and outdoor working environment and home floor decoration between the two groups. Conclusion: ESRα gene single nucleotide polymorphism rs9340799 may be associated with the risk of male infertility in Baotou, Inner Mongolia.
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