Department of Biology, Arsanjan Branch, Islamic Azad University, Arsanjan, Iran.
Department of Natural Resources, Arsanjan branch, Islamic Azad University, Arsanjan, Iran.
Eur J Obstet Gynecol Reprod Biol. 2019 Sep;240:57-61. doi: 10.1016/j.ejogrb.2019.06.014. Epub 2019 Jun 13.
Male infertility is a multifactorial disease resulting from the interaction between the genetic and environmental factors. Spermatogenic failure accounts for more than half of male infertility cases. Heat shock proteins (HSPs) are the molecular chaperones that are involved in different developmental stages of spermatogenesis. The current study was planned to investigate the role of HSPA1L rs2227956 and HSPA1B rs1061581 gene polymorphisms in idiopathic male infertility.
This case-control study was conducted on 516 subjects consisted of 308 patients with idiopathic male infertility and 208 age matched-(±5) control subjects. HSPA1L rs2227956 and HSPA1B rs1061581 polymorphisms were genotyped by PCR-RFLP method.
A significant association with male infertility was found for HSPA1L rs2227956 in genotypes (TT vs CT: OR = 2.049, 95% CI = 1.337-3.139, P = 0.001; TT vs CC: OR = 3.028, 95% CI = 1.100-8.332, P = 0.032). In the dominant genetic model, rs2227956C allele increased the risk of male infertility (OR = 2.049, 95% CI = 1.337-3.139, P = 0.001). Also, the results showed a significant association between the HSPA1B rs1061581GG genotype and male infertility (OR = 2.638, 95% CI: 1.001-4.486, P = 0.001). The rs1061581 G allele was a risk factor for male infertility (OR = 1.657, 95% CI = 1.278-2.148, P < 0.001). Haplotype analysis showed CG and TA (rs2227956/ rs1061581) haplotype affect the risk of male infertility (P < 0.001).
HSPA1L rs2227956 and HSPA1B rs1061581 gene polymorphisms are associated with susceptibility to idiopathic male infertility in Iranian population. Further studies in different ethnicity are necessary to confirm these results.
男性不育是一种由遗传和环境因素相互作用引起的多因素疾病。精子发生失败占男性不育病例的一半以上。热休克蛋白（HSPs）是参与精子发生不同发育阶段的分子伴侣。本研究旨在探讨 HSPA1L rs2227956 和 HSPA1B rs1061581 基因多态性与特发性男性不育的关系。
这项病例对照研究纳入了 516 名研究对象，包括 308 名特发性男性不育患者和 208 名年龄匹配（±5）的对照者。采用 PCR-RFLP 法检测 HSPA1L rs2227956 和 HSPA1B rs1061581 多态性。
HSPA1L rs2227956 基因型 TT 与 CT（比值比[OR] = 2.049，95%置信区间[CI] = 1.337-3.139，P = 0.001）和 CC（OR = 3.028，95%CI = 1.100-8.332，P = 0.032）相比与男性不育显著相关。在显性遗传模型中，rs2227956C 等位基因增加了男性不育的风险（OR = 2.049，95%CI = 1.337-3.139，P = 0.001）。此外，研究结果显示 HSPA1B rs1061581 GG 基因型与男性不育显著相关（OR = 2.638，95%CI：1.001-4.486，P = 0.001）。rs1061581G 等位基因是男性不育的危险因素（OR = 1.657，95%CI = 1.278-2.148，P < 0.001）。单体型分析显示 rs2227956/rs1061581 单体型 CG 和 TA 会影响男性不育的风险（P < 0.001）。
HSPA1L rs2227956 和 HSPA1B rs1061581 基因多态性与伊朗人群特发性男性不育的易感性相关。需要在不同种族中进行进一步的研究来证实这些结果。
