Rajovski Srećko, Matijašević-Joković Suzana, Milanović Nikoleta, Radovanović Nemanja, Brkušanin Miloš, Savić-Pavićević Dušanka, Dobrijević Zorana, Brajušković Goran
Private Healthcare Institution Clinical Hospital "Acibadem Sistina", Skopje, North Macedonia.
university of belgrade, faculty of biology, centre for human molecular genetic.
J Med Biochem. 2024 Nov 16;43(6):936-945. doi: 10.5937/jomb0-50876.
miRNAs have enormous potential to be used as diagnostic and prognostic markers as well as therapeutic targets in male infertility and diseases of the reproductive system. This study aimed to investigate the association between the two functional genetic variants in the hsa-miR27a (rs2910164) and hsa-miR-146a gene (rs895819) and male infertility in North Macedonian population, as well as to test their association with the values of major seminal parameters.
The case group included in this study comprised 158 men initially diagnosed with idiopathic male infertility. The control group included 126 age-matched healthy male volunteers who fathered at least one child.
We report the association of rs2910164 minor allele C for the first time with the increased susceptibility to asthenoteratozoospermia. Additionally, our results indicating the association of allele C with low sperm vitality are a novel finding. We did not demonstrate the association between genetic variant rs895819 and the risk of different types of male infertility. Still, the number of participants with CC genotype in subjects diagnosed with asthenoteratozoospermia was null, while in controls, it reached 7.2%. We further detected the rs895819 genotype-dependent difference in rapid progressive sperm motility.
The association of rs2910164 and rs895819 with idiopathic male infertility in general is unlikely. However, both of these variants show an association with certain types of male infertility and with sperm abnormalities, which need to be confirmed in later studies in different ethnic groups.
微小RNA（miRNAs）在男性不育和生殖系统疾病中作为诊断和预后标志物以及治疗靶点具有巨大潜力。本研究旨在调查北马其顿人群中hsa-miR27a（rs2910164）和hsa-miR-146a基因（rs895819）的两个功能性基因变异与男性不育之间的关联，并测试它们与主要精液参数值的关联。
本研究纳入的病例组包括158名最初被诊断为特发性男性不育的男性。对照组包括126名年龄匹配的健康男性志愿者，他们至少育有一个孩子。
我们首次报告rs2910164次要等位基因C与弱畸精子症易感性增加有关。此外，我们关于等位基因C与低精子活力相关的结果是一项新发现。我们未证明基因变异rs895819与不同类型男性不育风险之间的关联。然而，在被诊断为弱畸精子症的受试者中，CC基因型参与者数量为零，而在对照组中，这一比例达到7.2%。我们进一步检测到rs895819基因型依赖性的快速前向运动精子活力差异。
一般而言，rs2910164和rs895819与特发性男性不育之间不太可能存在关联。然而，这两个变异均显示与某些类型的男性不育以及精子异常有关，这需要在不同种族群体的后续研究中得到证实。
