Center for Reproductive Medicine, Department of Obstetrics and Gynecology , Anhui Provincial Hospital Affiliated to Anhui Medical University , Hefei, Anhui , China.
Syst Biol Reprod Med. 2013 Dec;59(6):342-6. doi: 10.3109/19396368.2013.818743.
TP53 is a tumor-suppressor gene which is involved in multiple pathways including apoptosis, transcriptional regulation, and cell cycle control. To analyze whether the TP53 gene Arg72Pro polymorphism (rs1042522) is responsible for susceptibility to idiopathic infertility in southeast Chinese Han males, we used the PCR restriction fragment length polymorphism technique to detect the genotype distribution of 361 infertile men (including 212 with non-obstructive azoospermia and 149 with severe oligozoospermia) in comparison with 384 fertile controls. Genotyping was confirmed by DNA sequencing from randomly selected samples. The frequency of rs1042522 indicated an association with risk of idiopathic male infertility under a dominant mode (GG + GC genotypes vs. CC genotype, P = 0.013; χ(2) = 6.169; OR = 1.581; 95%CI = 1.1-2.272; df = 1). Comparison of the allele frequencies revealed a significantly higher incidence of Arg allele among azoospermia group compared with controls (P = 0.001; χ(2) =10.864; OR = 1.502; 95%CI = 1.177-1.917; df = 1). Our data suggest that the Arg allele was related only to azoospermia, not to severe oligozoospermia (P = 0.133; χ(2) = 2.261; OR = 1.23; 95%CI = 0.939-1.611; df = 1). This study indicated that the TP53 gene Arg72Pro polymorphism of the spermatogenic pathway may be associated with idiopathic infertility in southeast Chinese Han males.
TP53 是一种肿瘤抑制基因,涉及多种途径,包括细胞凋亡、转录调控和细胞周期控制。为了分析 TP53 基因 Arg72Pro 多态性(rs1042522)是否与中国东南汉族男性特发性不育易感性有关,我们使用聚合酶链反应限制性片段长度多态性技术检测了 361 名不育男性(包括 212 名非梗阻性无精子症和 149 名严重少精子症)与 384 名正常生育对照的基因型分布。随机选择样本的 DNA 测序证实了基因分型。rs1042522 的频率表明,在显性模式下,与特发性男性不育的风险相关(GG+GC 基因型与 CC 基因型相比,P=0.013;χ²=6.169;OR=1.581;95%CI=1.1-2.272;df=1)。等位基因频率的比较显示,无精子症组中 Arg 等位基因的发生率明显高于对照组(P=0.001;χ²=10.864;OR=1.502;95%CI=1.177-1.917;df=1)。我们的数据表明,Arg 等位基因仅与无精子症相关,与严重少精子症无关(P=0.133;χ²=2.261;OR=1.23;95%CI=0.939-1.611;df=1)。本研究表明,生殖途径中的 TP53 基因 Arg72Pro 多态性可能与中国东南汉族男性特发性不育有关。