Povezanost genskoga polimorfizma - 455G/A beta-fibrinogena i pojavnosti tromba u aurikuli lijevog atrija u bolesnika s atrijskom fibrilacijom

doctoral thesis

• Title (english): The association of beta-fibrinogen – 455G/A gene polymorphism with left atrial thrombus in patient with atrial fibrillation
• Author: Petra Angebrandt Belošević
• Mentor: Anton Šmalcelj (mentor)
• Committee member: Diana Delić-Brkljačić (predsjednik povjerenstva)
• Committee member: Rajko Kušec (član povjerenstva)
• Committee member: Boris Starčević (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; Zagreb
• Defense date and country: 2023-01-20, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Basic Medical Sciences; Human Genetics, Genomics and Proteomics
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Internal Medicine
• Universal decimal classification (UDC): 616 - Pathology. Clinical medicine

Abstract

Uvod: Do sada su poznati brojni prediktori tromboze aurikule lijevog atrija, no u tom je području još uvijek mnogo nepoznanica, pogotovo kada je riječ o genetskim prediktorima. Cilj ovoga istraživanja bio je pronaći genski marker koji može biti prediktor tromboze i time poboljšati procjenu tromboembolijskog rizika.
Metode i ispitanici: Dizajnirana je opservacijska, unicentrična, retrospektivna studija koja je uključila ukupno 181 bolesnika s atrijskom fibrilacijom. Primarni ishod istraživanja bio je detekcija tromba u aurikuli lijevoga atrija, a svim bolesnicima rađena je genska analiza na - 455 G/A polimorfizam gena za β lanac fibrinogena.
Rezultati: Nakon provedene metode uparivanja prema vjerojatnosti sklonosti dviju skupina bolesnika, niti jedna ispitivana varijabla, uključujući polimorfizam - 455 G/A beta-fibrinogena, nije se pokazala neovisnim prediktorom tromboze aurikule lijevog atrija.
Rasprava: Rezultati istraživanja u skladu su s do sada objavljenim studijama, gdje još uvijek postoji nesklad u rezultatima te su neka istraživanja pronašla povezanost - 455 G/A polimorfizma s trombogenezom, dok pak neka druga istraživanja nisu pronašla funkcionalnu vezu.
Zaključak: Rezultati upućuju na to da tromboza aurikule lijevoga atrija nije neovisno povezana sa - 455 G/A polimorfizmom za β lanac fibrinogena te je vjerojatno posljedica interakcije između gena, te gena i okoliša. No za dokazivanje navedenoga bit će nužna daljnja istraživanja.

Abstract (english)

Introduction: There are many predictors of left atrial appendage thrombosis, but still there are many unknown facts, articularly in the area of genetic predictors. Purpose of this study was to find genetic predictor of thrombosis and to enhance evaluation of thromboembolic risk.
Methods: We conducted an observational, retrospective, unicentric study involving 181 patients with AF. Primary outcome of this study was to detect thrombus in left atrial appendage and all patients were scheduled for genetic analysis for - 55G/A β fibrinogen polymorphism.
Results: After performing propensity score matching method, none of tested parameters, including - 455G/A polymorphism, were not independent predictors of left atrial appendage thrombosis.
Discussion: This results are consistent with the results from many other studies in this field, where some studies have found functional relationship between thrombosis and - 455G/A polymorphism, but still many other studies have not found the same interaction.
Conclusion: Results showed that left atrial appendage thrombosis is not independently related with - 455G/A polymorphism for β chain of fibrinogen. It’s probably consequence of interactions between genes, and genes and environment. However, to confirm such statement we need to conduct more research in the future.

• Keywords: Fibrinogen; Retrospektivne studije; Tromboza; Tromboembolija
• Keywords (english): Fibrinogen; Retrospective Studies; Thrombosis; Thromboembolism
• Language: croatian
• URN:NBN: urn:nbn:hr:105:414053
• Study programme: Title: Biomedicine and Health Sciences; Study programme type: university; Study level: postgraduate; Academic / professional title: doktor/doktorica znanosti, područje biomedicine i zdravstvo (doktor/doktorica znanosti, područje biomedicine i zdravstvo)
• Type of resource: Text
• Extent: 74 str.
• File origin: Born digital
• Access conditions: Open access
• Created on: 2023-03-20 08:29:20