Rafatmanesh A, Nikzad H, Ebrahimi A, Karimian M, Zamani T
Gametogenesis Research Center, Kashan University of Medical Sciences, Kashan, Iran.
Anatomical Sciences Research Center, Kashan University of Medical Sciences, Kashan, Iran.
Andrologia. 2018 Feb;50(1). doi: 10.1111/and.12805. Epub 2017 Mar 30.
The H2BFWT (H2B family, member W, testis specific) gene is a testis-specific histone which is involved in the spermatogenesis process. This study aimed to investigate the association of H2BFWT gene c.-9C>T and c.368A>G polymorphisms with male infertility in an Iranian population. The 232 independent individuals, including 109 infertile men and 123 healthy controls, were recruited from IVF centre (Kashan, Iran). The allele types of c.-9C>T and c.368A>G polymorphisms were detected by using PCR-RFLP method. In overall analysis, we found that the c.-9T (OR: 1.75, 95% CI: 1.04-2.95, p = .035) and c.368G (OR: 1.71, 95% CI: 1.02-2.89, p = .042) alleles are associated with male infertility. The c.-9T allele was also associated with nonobstructive azoospermia (OR: 2.08, 95% CI: 1.01-4.25, p = .046), while c.368G allele was associated with oligozoospermia (OR: 2.10, 95% CI: 1.15-3.85, p = .016). It is concluded that H2BFWT gene c.-9C>T and c.368A>G polymorphisms might be genetic risk factors for idiopathic male infertility.
H2BFWT（H2B家族，成员W，睾丸特异性）基因是一种睾丸特异性组蛋白，参与精子发生过程。本研究旨在探讨伊朗人群中H2BFWT基因c.-9C>T和c.368A>G多态性与男性不育症的关联。从体外受精中心（伊朗卡尚）招募了232名独立个体，包括109名不育男性和123名健康对照。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测c.-9C>T和c.368A>G多态性的等位基因类型。在总体分析中，我们发现c.-9T等位基因（比值比：1.75，95%置信区间：1.04-2.95，p = 0.035）和c.368G等位基因（比值比：1.71，95%置信区间：1.02-2.89，p = 0.042）与男性不育症相关。c.-9T等位基因还与非梗阻性无精子症相关（比值比：2.08，95%置信区间：1.01-4.25，p = 0.046），而c.368G等位基因与少精子症相关（比值比：2.10，95%置信区间：1.15-3.85，p = 0.016）。结论是，H2BFWT基因c.-9C>T和c.368A>G多态性可能是特发性男性不育症的遗传危险因素。
