1Clinical Center for Urological Disease Diagnosis and Private Clinic Specialized in Urological and Andrological Genetics, Tehran, Iran.
Reprod Sci. 2013 Dec;20(12):1423-32. doi: 10.1177/1933719113488451. Epub 2013 May 23.
We wanted to determine whether genetic polymorphisms of aryl hydrocarbon receptor (AhR) gene are associated with susceptibility to male infertility. This study comprised 176 men with idiopathic infertility and 352 healthy fertile men who served as controls. Seven single-nucleotide polymorphisms (SNPs) of the AhR gene (rs2066853, rs1476080, rs10250822, rs10247158, rs2282885, rs6960165, and rs7811989) were selected and genotyped by the polymerase chain reaction-restriction fragment length polymorphism analysis. The serum levels of reproductive and thyroid hormones and inhibin B were also measured. After multiple regression analysis, 2 of the 7 studied SNPs were significantly associated with the occurrence of male infertility. Men with rs2066853 AA genotype had 33% decreased risk of being infertile (odds ratio [OR] = 0.67, 95% confidence interval [CI]: 0.46-0.87; P = .003). The C allele of rs2282885 was significantly associated with infertility risk, with an OR of 2.14 (95% CI: 1.64-3.72) for heterozygotes and 3.54 (95% CI: 2.25-5.84) for homozygotes. When haplotypes were composed of 7 AhR SNP sites, patients with AACACAG haplotype harbored more than 75% decreased risk of being infertile (OR = 0.21, 95% CI: 0.11-0.32; P = .001). Conversely, carriers of the AACACGA haplotype had more than 12-fold increased risk of being infertile (OR = 12.62, 95% CI: 2.77-52.74; P = .00001). Homozygosity for the rs2066853 A allele and rs2282885 C allele decreases and increases the risk of developing male infertility, respectively.
我们旨在确定芳香烃受体（AhR）基因的遗传多态性是否与男性不育易感性相关。本研究纳入了 176 名特发性不育男性和 352 名健康生育男性作为对照。选择了 AhR 基因的 7 个单核苷酸多态性（SNP）（rs2066853、rs1476080、rs10250822、rs10247158、rs2282885、rs6960165 和 rs7811989），并通过聚合酶链反应-限制性片段长度多态性分析进行了基因分型。还测量了生殖和甲状腺激素以及抑制素 B 的血清水平。经过多元回归分析，在研究的 7 个 SNP 中有 2 个与男性不育的发生显著相关。携带 rs2066853 AA 基因型的男性不育风险降低了 33%（比值比[OR] = 0.67，95%置信区间[CI]：0.46-0.87；P =.003）。rs2282885 的 C 等位基因与不育风险显著相关，杂合子的 OR 为 2.14（95%CI：1.64-3.72），纯合子的 OR 为 3.54（95%CI：2.25-5.84）。当由 7 个 AhR SNP 位点组成的单倍型时，AACACAG 单倍型的患者不育风险降低了 75%以上（OR = 0.21，95%CI：0.11-0.32；P =.001）。相反，AACACGA 单倍型的携带者不育的风险增加了 12 倍以上（OR = 12.62，95%CI：2.77-52.74；P =.00001）。rs2066853 A 等位基因和 rs2282885 C 等位基因的纯合性分别降低和增加了男性不育的风险。
