Dehghanpour Fatemeh, Fesahat Farzaneh, Miresmaeili Seyed Mohsen, Zare Mehrjardi Ehsan, Honarju Ahmad, Talebi Ali Reza
Research and Clinical Center for Infertility, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Medical Biotechnology Research Center, Ashkezar Branch, Islamic Azad University, Yazd, Iran.
Int J Fertil Steril. 2019 Apr;13(1):77-82. doi: 10.22074/ijfs.2019.5650. Epub 2019 Jan 6.
Single nucleotide polymorphisms (SNPs) in a number of genes involved in sperm maturation are considered as one of the main factors for male infertility. The aim of the present case-control study was to examine the association of SNPs in protamine1 (PRM1) and protamine2 (PRM2) genes with idiopathic teratozoospermia. In this case-control study, some SNPs in PRM1 (c.49 C>T, c.102 G>T and c.230A>C) and PRM2 (rs545828790, rs115686767, rs201933708, rs2070923 and rs1646022) were investigated in 30 idiopathic infertile men with teratozoospermia (case group) in comparison with 35 fertile men (controls). Genotyping of SNPs was undertaken using polymerase chain reaction (PCR)-direct sequencing. For PRM1, c.230A>C, as a synonymous polymorphism, was detected in both teratozoospermic men (heterozygous n=26, homozygous minor n=1) allele frequency C(48) A(52) and controls (heterozygous n=15, homozygous minor n=4). All cases and controls were genotyped for rs545828790 in PRM2, a missense polymorphism, as well as rs115686767 and rs201933708, both of which synonymous variants. The findings showed an intronic variant in PRM2 (rs2070923) was also present in both groups. Also, rs1646022, a missense polymorphism, occurred in teratozoospermic men (heterozygous n=10, homozygous minor n=5) and controls (heterozygous n=13, homozygous minor n=2). However, there were no significant differences in SNPs of PRM1 and PRM2 between the two groups, however, for c.230A>C, the frequency of the CA genotype was significantly higher in infertile men with teratozoospermia (P=0.001). We demonstrate that PRM2 G398C and A473C polymorphisms were associated with the teratozoospermia and its genetic variation was in relation to semen quality, sperm apoptosis, and morphology in the Iranian population. This study is a preliminary study and presenting data as part of a future comprehensive study to clinically establish whether these gene polymorphisms are biomarkers for susceptibility to teratozoospermia.
参与精子成熟的多个基因中的单核苷酸多态性（SNP）被认为是男性不育的主要因素之一。本病例对照研究的目的是检测鱼精蛋白1（PRM1）和鱼精蛋白2（PRM2）基因中的SNP与特发性畸形精子症之间的关联。在这项病例对照研究中，对30例患有畸形精子症的特发性不育男性（病例组）与35例有生育能力的男性（对照组）进行了PRM1（c.49 C>T、c.102 G>T和c.230A>C）和PRM2（rs545828790、rs115686767、rs201933708、rs2070923和rs1646022）中的一些SNP进行了研究。使用聚合酶链反应（PCR）直接测序对SNP进行基因分型。对于PRM1，c.230A>C作为同义多态性，在畸形精子症男性（杂合子n = 26，纯合子次要等位基因n = 1）中检测到，等位基因频率C（48）A（52），在对照组中（杂合子n = 15，纯合子次要等位基因n = 4）也有检测到。对PRM2中的rs545828790（一种错义多态性）以及rs115686767和rs201933708（均为同义变体）进行了所有病例和对照的基因分型。结果显示PRM2中的一个内含子变体（rs2070923）在两组中均存在。此外，rs1646022（一种错义多态性）在畸形精子症男性（杂合子n = 10，纯合子次要等位基因n = 5）和对照组（杂合子n = 13，纯合子次要等位基因n = 2）中出现。然而，两组之间PRM1和PRM2的SNP没有显著差异，但是对于c.230A>C，CA基因型的频率在患有畸形精子症的不育男性中显著更高（P = 0.001）。我们证明PRM2的G398C和A473C多态性与畸形精子症相关，并且其基因变异与伊朗人群的精液质量、精子凋亡和形态有关。本研究是一项初步研究，作为未来综合研究的一部分提供数据，以临床确定这些基因多态性是否是畸形精子症易感性的生物标志物。
