State Key Laboratory of Reproductive Medicine, Department of Obstetrics, Nanjing Maternity and Child Health Hospital, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing, 210004, China.
State Key Laboratory of Reproductive Medicine, Institute of Applied Toxicology, School of Public Health, Nanjing Medical University, Nanjing, 211166, China.
Sci Rep. 2017 Sep 11;7(1):11219. doi: 10.1038/s41598-017-11636-9.
The purpose of this study was to investigate the association between male infertility and single-nucleotide polymorphisms (SNPs) of DNA methyltransferases (DNMT) genes (DNMT3B: rs2424909, DNMT1: rs4804490, DNMT3A: rs1550117 and DNMT3L: rs7354779). Eight hundred and thirty three idiopathic infertile males and four hundred and ten fertile controls from the hospitals affiliated to Nanjing Medical University between 2010 and 2012 were recruited in the study. We demonstrated a significantly increased risk of idiopathic infertility with abnormal semen parameters in association with the heterozygous genotype of variant rs4804490. Moreover, the AA genotype of variant rs4804490 was associated with significantly decreased risk for male infertility with abnormal semen parameters. A decreased risk of idiopathic infertility with abnormal semen parameters was associated with the homozygous genotype of variant rs2424909. These results suggested that variants in different DNMT genes have different relationships with idiopathic male infertility, and Chinese men carrying these variants have an increased or decreased risk of abnormal semen parameters.
本研究旨在探讨男性不育与 DNA 甲基转移酶 (DNMT) 基因单核苷酸多态性 (SNP) 之间的关系（DNMT3B：rs2424909、DNMT1：rs4804490、DNMT3A：rs1550117 和 DNMT3L：rs7354779）。本研究纳入了 2010 年至 2012 年期间南京医科大学附属医院的 833 名特发性不育男性和 410 名生育力正常的对照。我们发现，携带异常精液参数的杂合基因型 rs4804490 与特发性不育的风险显著增加相关。此外，rs4804490 的 AA 基因型与异常精液参数的男性不育风险显著降低相关。rs2424909 的纯合基因型与异常精液参数的特发性不育风险降低相关。这些结果表明，不同 DNMT 基因的变异与特发性男性不育有不同的关系，携带这些变异的中国男性发生异常精液参数的风险增加或降低。
