Jiang Weijun, Zhu Peiran, Zhang Jing, Wu Qiuyue, Li Weiwei, Liu Shuaimei, Ni Mengxia, Yu Maomao, Cao Jin, Li Yi, Cui Yingxia, Xia Xinyi
Department of Reproduction and Genetics, Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
Oncotarget. 2017 Jun 27;8(37):61637-61645. doi: 10.18632/oncotarget.18660. eCollection 2017 Sep 22.
Protamine (PRM) plays important roles in the packaging of DNA within the sperm nucleus. To investigate the role of and transition protein 1 () polymorphisms in male infertility, 636 infertile men and 442 healthy individuals were recruited into this case-controlled study of the Chinese Han population, using MassARRAY technology to analyze genotypes. Our analysis showed that there were no significant differences between controls and infertile cases among the five single nucleotide polymorphisms identified in , and [rs737008 (G/A), rs2301365 (C/A), rs2070923 (C/A), rs1646022 (C/G) and rs62180545 (A/G)]. However, we found that the and haplotypes GCTGC, TCGCA and TCGCC exhibited significant protective effects against male infertility compared to fertile men, while TCGGA, GCTCC and TCGGC represented significant risk factors for spermatogenesis. Our data showed that rs737008 and rs2301365 in and rs1646022 in were significantly associated with male infertility and that gene-gene interaction played a role in male infertility. A linkage disequilibrium plot for the five SNPs showed that rs737008 was strongly linked with both rs2301365 and rs2070923. These findings are likely to help improve our understanding of the etiology of male infertility. Further studies should include a larger number of genes and SNPs, particularly growing critical genes; such studies will help us to unravel the effect of individual genetic factors upon male infertility.
鱼精蛋白（PRM）在精子细胞核内DNA的包装过程中发挥着重要作用。为了研究鱼精蛋白和过渡蛋白1（TP1）基因多态性在男性不育中的作用，本病例对照研究纳入了636名不育男性和442名健康个体，组成中国汉族人群样本，采用MassARRAY技术分析基因型。我们的分析表明，在鱼精蛋白、过渡蛋白1和过渡蛋白2中鉴定出的5个单核苷酸多态性[rs737008（G/A）、rs2301365（C/A）、rs2070923（C/A）、rs1646022（C/G）和rs62180545（A/G）]在对照组和不育病例组之间没有显著差异。然而，我们发现，与可育男性相比，鱼精蛋白和过渡蛋白2的单倍型GCTGC、TCGCA和TCGCC对男性不育具有显著的保护作用，而TCGGA、GCTCC和TCGGC是精子发生的显著风险因素。我们的数据表明，鱼精蛋白中的rs737008和rs2301365以及过渡蛋白2中的rs1646022与男性不育显著相关，并且基因-基因相互作用在男性不育中发挥作用。这5个单核苷酸多态性的连锁不平衡图显示，rs737008与rs2301365和rs2070923都紧密连锁。这些发现可能有助于增进我们对男性不育病因的理解。进一步的研究应纳入更多基因和单核苷酸多态性，尤其是日益关键的基因；此类研究将有助于我们阐明个体遗传因素对男性不育的影响。
