Research Papers:

Polymorphisms of protamine genes contribute to male infertility susceptibility in the Chinese Han population

Weijun Jiang, Peiran Zhu, Jing Zhang, Qiuyue Wu, Weiwei Li, Shuaimei Liu, Mengxia Ni, Maomao Yu, Jin Cao, Yi Li, Yingxia Cui and Xinyi Xia _

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Oncotarget. 2017; 8:61637-61645. https://doi.org/10.18632/oncotarget.18660

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Weijun Jiang1, Peiran Zhu1, Jing Zhang1, Qiuyue Wu1, Weiwei Li1, Shuaimei Liu1, Mengxia Ni1, Maomao Yu1, Jin Cao1, Yi Li1, Yingxia Cui1 and Xinyi Xia1

1Department of Reproduction and Genetics, Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China

Correspondence to:

Xinyi Xia, email: [email protected]

Keywords: polymorphism, protamine, male infertility, transition protein

Received: March 21, 2017     Accepted: May 09, 2017     Published: June 27, 2017


Protamine (PRM) plays important roles in the packaging of DNA within the sperm nucleus. To investigate the role of PRM1/2 and transition protein 1 (TNP1) 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 PRM1, PRM2 and TNP1 [rs737008 (G/A), rs2301365 (C/A), rs2070923 (C/A), rs1646022 (C/G) and rs62180545 (A/G)]. However, we found that the PRM1 and PRM2 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 PRM1, and rs1646022 in PRM2, 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.

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