AHR基因多态性与维持精子数量的关联性  

AHR Gene variants correlated with sperm count

作　　者：刘舒媛[1] 张昌军[2] 彭海英[2] 孙浩[1] 黄小琴[1] 林克勤[1] 黄铠[1] 褚嘉祐[1] 杨昭庆[1] 

机构地区：[1]中国医学科学院医学生物学研究所,昆明650118 [2]湖北省十堰市人民医院生殖医学研究中心,十堰442000

出　　处：《中国优生与遗传杂志》2016年第5期25-29,共5页Chinese Journal of Birth Health & Heredity

摘　　要：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。Objects：Study the association between single nuclear polymorphism of Ary hydrocarbon receptor（AHR）and idiopathic male infertility of Han Chinese. Methods：136 idiopathic infertile men and 456 healthy fertile men were included in this study and a Sequenom Mass ARRAY assay was used to genotyped two SNP（rs2066853 and rs215840）in AHR gene. Results：rs2066853 was associated with oligozoospermia（P=0.03964,OR=1.873,95% CI：1.021-3.436）. Further more,the sperm concentration of either rs20066853 AA homozygotes or rs215840 AA homozygotes are significantly lower than the GG carriers（70.4028±49.86762 v.s 89.1207±61.24698 and 57.7250±33.95094 v.s 70.4028±49.86762,P=2.73E04 and P=0.006）. And the haplotypes of rs215840 and rs2066853 were constructed using haploview,finding that the distribution of G-A haplotype carriers were significantly different in oligoasthenozoospermia group（50%）compared with the control group（34.8%）. Conclusion：the variant of AHR gene may correlated with sperm count.

关 键 词：AHR基因 特发性男性不育 精子质量 

分 类 号：R698.2[医药卫生—泌尿科学]