Povezanost polimorfizma gena za katehol-O-metil transferazu i monoaminooksidazu tipa B s anhedonijom u bolesnika sa shizofrenijom

doctoral thesis

• Title (english): The association between catechol-O-methyl transferase and monoamine oxidase type B gene polymorphisms and anhedonia in patients with schizophrenia
• Author: Zoran Madžarac; MBZ: 289595
• Mentor: Marina Šagud (mentor)
• Mentor: Nela Pivac (komentor)
• Committee member: Alma Mihaljević-Peleš (predsjednik povjerenstva)
• Committee member: Nada Božina (član povjerenstva)
• Committee member: Dalibor Karlović (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; Zagreb
• Defense date and country: 2021-02-19, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Psychiatry
• Universal decimal classification (UDC): 61 - Medical sciences

Abstract

Cilj ovog istraživanja je bio istražiti povezanost polimorfizama za katehol-O-metil transferazu (COMT) rs4680 i rs4818 i monoaminooksidazu tipa B (MAO-B) rs1799836 i rs6651806 s anhedonijom i drugim negativnim simptomima kod bolesnika sa shizofrenijom.
Presječno istraživanje obuhvatilo je 302 bolesnika (58.9% muških, medijan godina 42).
Glavni rezultati: nositeljice G alela (povezanog s većom aktivnošću COMT-a) za COMT rs4680 i rs4818 imale su izraženije negativne simptome u odnosu na ispitanice bez G alela. COMT rs4818-rs4680 haplotip G-G je kod ispitanica bio povezan s izraženijim negativnim simptomima. Muški nositelji MAO-B rs1799836 A alela imali su izraženiju alogiju prema nositeljima G alela. Ispitanice s fizičkom i socijalnom anhedonijom imale su veću frekvenciju pojavljivanja MAO-B rs6651806 A alela od ispitanica bez navedenih podtipova anhedonije, ali su nositeljice A alela imale manje depresivnih simptoma od nositeljica C alela. Muški nositelji MAO-B rs6651806 A alela imali su izraženije negativne simptome nego nositelji C alela, dok je MAO-B rs1799836-rs6651806 haplotip G-C kod muških ispitanika bio povezan s manje izraženim negativnim simptomima.
Zaključno, rezultati istraživanja pokazali su postojanje složene i spolno specifične povezanosti polimorfizama COMT i MAO-B i anhedonije te negativnih simptoma u shizofreniji, te ističu povezanost između slabog istraženog polimorfizma MAO-B rs6651806 i određenih skupina simptoma shizofrenije.

Abstract (english)

The aim of the study was to investigate the association of catechol-O-methyl transferase (COMT) rs4680 and rs4818, and monoamine oxidase type B (MAO-B) rs1799836 and rs6651806 polymorphisms, with anhedonia and other negative symptoms in patients with schizophrenia.
This cross-sectional study included 302 patients (58.9% males, median age 42).
Main findings: Female carriers of the COMT rs4680 and rs4818 G-allele (related to higher COMT activity) had more severe negative symptoms, compared to females without G allele. COMT rs4818-rs4680 G-G haplotype in females was associated with more severe negative symptoms.
Male MAO-B rs1799836 A-allele carriers had more severe alogia than G-allele carriers. Females with physical and social anhedonia had higher frequency of MAO-B rs6651806 A-allele, than females without such anhedonia subtypes, but female A-allele carriers had less severe depressive symptoms than C-allele carriers. Male carriers of MAO-B rs6651806 A-allele had more prominent negative symptoms than C-allele carriers, while MAO-B rs1799836-rs6651806 G-C haplotype in males was associated with less severe negative symptoms.
Those findings implicate complex, but sex-specific associations between COMT and MAO-B polymorphisms with anhedonia and negative symptoms in schizophrenia, and highlight the relationship between poorly known MAO-B rs6651806 polymorphism and several symptom domains in schizophrenia.

• Keywords: anhedonija; shizofrenija; negativni simptomi; COMT; MAO-B; polimorfizmi
• Keywords (english): anhedonia; schizophrenia; negative symptoms; COMT; MAO-B; polymorphisms
• Language: croatian
• URN:NBN: urn:nbn:hr:105:253641
• Promotion: 2021
• 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: 130 str.
• File origin: Born digital
• Access conditions: Open access
• Created on: 2021-04-12 10:06:47