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. 2024 Nov 16;43(6):936-945.
doi: 10.5937/jomb0-50876.

Association between genetic variants in hsa-miR-27a and hsa-miR-146a genes and male infertility

Srećko Rajovski  1 , Suzana Matijašević-Joković  2 , Nikoleta Milanović  2 , Nemanja Radovanović  2 , Miloš Brkušanin  2 , Dušanka Savić-Pavićević  2 , Zorana Dobrijević  3 , Goran Brajušković  2
Affiliations

Association between genetic variants in hsa-miR-27a and hsa-miR-146a genes and male infertility

Srećko Rajovski et al. J Med Biochem. .

Abstract
in English, Serbian

Background: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

Uvod: miRNA molekule odlikuje izuzetan potencijal za upotrebu u vidu dijagnostičkih i prognostičkih biomarkera i terapijskih targeta kod muškog steriliteta i bolesti reproduktivnog sistema. Cilj ove studije je bilo ispitivanje asocijacije dveju funkcionalnih genetičkih varijanti gena hsa-miR-27a (rs2910164) i hsa-miR-146a (rs895819) i idiopatskog muškog steriliteta u populaciji Severne Makedonije i testiranje njihove asocijacije sa vrednostima seminalnih parametara.

Metode: Grupu ispitanika činilo je 158 muškaraca sa inicijalnom dijagnozom idiopatskog muškog steriliteta. Kontrolna grupa je uključivala 126 muškaraca volontera podudarne starosti koji su imali barem jedno dete.

Rezultati: Po prvi put je pokazana asocijacija manje učestalog alela C varijante rs2910164 sa povišenim rizikom za pojavu steriliteta kod muškaraca sa astenoteratozoospermijom. Takođe, rezultati koji ukazuju na asocijaciju alela C sa nižom stopom vijabilnosti spermatozoida predstavljaju novi nalaz. Nije pokazana asocijacija varijante rs895819 sa rizikom za pojavu muškog steriliteta. Ipak, procenat učesnika u studiji sa genotipom CC među muškarcima sa dijagnozom astenoteratozoospermije bio je 0, dok je u grupi kontrola iznosio 7,2%. Pored toga, ustanovljen je efekat varijante rs895819 na brzu progresivnu pokretljivost spermatozoida.

Zaključak: Asocijacija rs2910164 i rs895819 sa idiopatskim muškim sterilitetom uopšteno nije potvrđena. S druge strane, za obe navedene varijante pokazana je asocijacija sa rizikom za pojavu određenih tipova muškog steriliteta, kao i sa abnormalnostima spermatozoida. Navedene rezultate je potrebno potvrditi u budućim studijama u drugim etničkim grupama.

Keywords: male infertility; miR-146a; miR-27a; polymorphism; rs2910164; rs895819.

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Conflict of interest statement

All the authors declare that they have no conflict of interest in this work.Conflict of Interest: The authors stated that they have no conflicts of interest regarding the publication of this article.

Figures

Figure 1
Figure 1. Sperm progressive motility (a) and rapid progressive motility (b) in infertile men across genotypes of rs895819. Data represent the median and interquartile range (IQR). P<0.05 is indicated by an asterisk.
See this image and copyright information in PMC

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