论文部分内容阅读
目的研究芳(香)烃受体(Aryl hydrocarbon receptor,AHR)基因两个单核苷酸多态性位点:rs2066853和rs215840与中国人群特发性男性不育的相关性。方法选取特发性男性不育病例136例和正常可育对照456人作为研究对象,采用飞行质谱的方法对SNP进行基因分型。结果 AHR基因rs2066853与寡弱精子症有相关性(P=0.03964,OR=1.873,95%CI:1.021-3.436);rs2066853AA基因型以及rs215840AA基因型携带者的精子密度(70.4028±49.86762和57.7250±33.95094)均显著低于GG基因型携带者(89.1207±61.24698和70.4028±49.86762),差异有统计学意义(P=2.73E04和P=0.006);构建rs215840-rs2066853的单倍型,GA单倍型在寡弱精子症组中的分布(50%)高于对照组(34.8%),差异有统计学意义(P=0.0397)。结论 AHR基因可能对于维持精子数量起到作用。
Objective To investigate the association of rs2066853 and rs215840 with idiopathic male infertility in Chinese population with two single nucleotide polymorphisms (SNPs) of Aryl hydrocarbon receptor (AHR) gene. Methods One hundred and sixty-six cases of idiopathic male infertility and 456 cases of normal fertile control were selected as experimental subjects, and SNPs were genotyped by using flight mass spectrometry. Results The rs2066853 AHR gene was associated with oligoasthenospermia (P = 0.03964, OR = 1.873, 95% CI: 1.021-3.436). The sperm densities of rs2066853AA genotype and rs215840AA genotype (70.4028 ± 49.86762 and 57.7250 ± 33.95094 ) Were significantly lower than that of GG genotype carriers (89.1207 ± 61.24698 and 70.4028 ± 49.86762), the difference was statistically significant (P = 2.73E04 and P = 0.006); Construction of haplotype rs215840-rs2066853, GA haplotype The distribution of oligoasthenospermia group (50%) was higher than that of the control group (34.8%), the difference was statistically significant (P = 0.0397). Conclusion The AHR gene may play a role in maintaining the number of sperm.