Uticaj TMPRSS6 genotipova na parametre statusa gvožđa kod pacijenata sa stabilnim oblikom HOBP

DOI: https://doi.org/10.5937/jomb0-52996
Ključne reči: deficijencija vitamina B12; eritropoetin; hepcidin; HOBP; parametri statusa gvožđa; polimorfizam gena TMPRSS6

Sažetak


Uvod: Polimorfizam rs855791 povezan je s povišenim hepcidinom i promenama u vrednostima serumskog gvožđa, saturacije transferina i eritrocitnim indeksima. Cilj istraživanja bio je da se odredi zastupljenost ovog polimorfizma kod pacijenata sa HOBP, kao i da se ispita njegov uticaj na vrednosti parametara statusa gvožđa uključujući hepcidin kod pacijenata sa stabilnim oblikom HOBP. 

Metode: Parametri statusa gvožđa i zastupljenost genotipova su ispitani kod 94 pacijenta s HOBP: 29 pacijenata s wild-type tip varijantom (WT grupa) i 65 pacijenata s homozigotonom ili heterozigotnom varijantom (HH grupa). Zastupljenost genotipova određena je i kod 192 ispitanika kontrolne grupe.

Rezultati: Zastupljenosti polimorfizma rs855791 kod pacijenata s HOBP i ispitanika kontrolne grupe je bila uporediva (p=0.791). Parametri statusa gvožđa su bili u okvirima svojih referentnih vrednosti i nije bilo ni statistički ni klinički značajne razlike između WT i HH grupe pacijenata s HOBP. Nakon isključenja pacijenata sa (sub)kliničkim deficitom vitamina B12 i/ili hipoksijom, dobijene su statistički značajno niže vrednosti eritropoetina  kod ispitanika WT grupe (p=0.015). Površina ispod krive (AUC) iznosila je 0.688 (95% CI: 0.545-0.830, p=0.015). Određena je optimalna granična vrednost za eritropoetin od 9,74 mIU/mL sa osetljivošću od 61.2% (95% CI: 58.1-64.3) i specifičnošću od 65.0% (95% CI: 61.8-68.3).

Zaključak:  Kod pacijenata sa stabilnim oblikom HOBP, parametri statusa gvožđa se ne razlikuju između pacijenata sa wild-type i pacijenata s homozigotnom ili heterozigotnom varaijantom.  Nakon isključenja pacijenata sa (sub)kliničkim deficitom vitamina B12 i/ili hipoksijom, dobijena je statistički, ali ne i klinički značajna razlika u vrednosti eritropoetina između WT i HH grupe pacijenata. Ova razlika sugeriše da eritropoetin utiče na vrednosti hepcidina i tako sprečava nastanak deficijencije gvožđa i/ili anemije.

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Objavljeno
2024/11/07
Broj časopisa
Vol. 44 Br. 1 (2025): Journal of Medical Biochemistry
Rubrika
Original paper

Sva prava zadržana (c) 2024 Marko Trtica, Ivana Novaković, Violeta Dopsaj, Branislava Milenković, Jelena Janković, Sanja Dimić Janjić, Vesna Dopuđa Pantić, Jelena Martinović, Snežana Jovičić

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