The Associations between COMT and MAO-B Genetic Variants with Negative Symptoms in Patients with Schizophrenia

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• Autor: Zoran Madžarac
• Autor: Lucija Tudor
• Autor: Marina Šagud
• Autor: Gordana Nedić Erjavec
• Autor: Alma Mihaljević Peleš
• Autor: Nela Pivac
• Autorova ustanova: Sveučilište u Zagrebu; Medicinski fakultet; (KATEDRA ZA PSIHIJATRIJU I PSIHOLOŠKU MEDICINU)
• Znanstveno / umjetničko područje, polje i grana: BIOMEDICINA I ZDRAVSTVO; Kliničke medicinske znanosti; Psihijatrija

Sažetak (engleski)

Negative symptoms of schizophrenia, including anhedonia, represent a heavy burden on patients and their relatives. These symptoms are associated with cortical hypodopamynergia and impaired striatal dopamine release in response to reward stimuli. Catechol-O-methyltransferase (COMT) and monoamine oxidase type B (MAO-B) degrade dopamine and affect its neurotransmission. The study determined the association between COMT rs4680 and rs4818, MAO-B rs1799836 and rs6651806 polymorphisms, the severity of negative symptoms, and physical and social anhedonia in schizophrenia. Sex-dependent associations were detected in a research sample of 302 patients with schizophrenia. In female patients with schizophrenia, the presence of the G allele or GG genotype of COMT rs4680 and rs4818, as well as GG haplotype rs4818-rs4680, which were all related to higher COMT activity, was associated with an increase in several dimensions of negative symptoms and anhedonia. In male patients with schizophrenia, carriers of the MAO-B rs1799836 A allele, presumably associated with higher MAO-B activity, had a higher severity of alogia, while carriers of the A allele of the MAO-B rs6651806 had a higher severity of negative symptoms. These findings suggest that higher dopamine degradation, associated with COMT and MAO-B genetic variants, is associated with a sex-specific increase in the severity of negative symptoms in schizophrenia patients.

• Ključne riječi (engleski): Adult; Alleles; Catechol O-Methyltransferase / genetics; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genetic Variation; Genotype; Humans; Male; Middle Aged; Monoamine Oxidase / genetics; Polymorphism, Single Nucleotide; Schizophrenia / diagnosis; Schizophrenia / genetics; Schizophrenic Psychology; Symptom Assessment; Young Adult
• Jezik: engleski
• Vrsta publikacije: Znanstveni rad - Izvorni znanstveni rad
• Status objave: Objavljen
• Vrsta recenzije: Recenziran
• Verzija publikacije: Objavljena verzija rada (izdavačev PDF)
• Naslov časopisa: Current Issues in Molecular Biology
• Brojčani podaci: vol. 43, br. 2, str. 618-636
• e-ISSN: 1467-3045
• DOI: https://doi.org/10.3390/cimb43020045
• URN:NBN: urn:nbn:hr:105:238298
• Datum objave publikacije: 2021-07-08
• URL dokumenta: https://www.mdpi.com/1467-3045/43/2/45
• Vrsta resursa: Tekst
• Prava pristupa: Otvoreni pristup
• Datum i vrijeme pohrane: 2022-06-09 09:10:26