Asocijacija varijanti u genima hsa-miR-27a i hsa-miR-146a sa muškim sterilitetom
Sažetak
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 bilo je 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 uključivala je 126 muškaraca volontera podudarne starosti koji su očevi barem jednog deteta.
Rezultati: Po prvi put pokazana je asocijacija manje učestalog alela C varijante rs2910164 sa povišenim rizikom za 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.
Zaključci: 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 potrebno je potvrditi u budućim studijama u drugim etničkim grupama.
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Sva prava zadržana (c) 2024 Zorana Dobrijević, Srećko Rajovski, Suzana Matijašević Joković, Nikoleta Milanović, Nemanja Radovanović, Miloš Brkušanin, Dušanka Savić-Pavićević, Goran Brajušković
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