Polimorfizam gena za alfa2-podjedinicu receptora GABA-A u osoba ovisnih o alkoholu

master's thesis

• Title (english): GABA-A receptor alfa2-subunit polymorphism in alcohol-dependent individuals
• Author: Dijana Stanić
• Mentor: Dubravka Švob Štrac (mentor)
• Mentor: Domagoj Đikić (mentor)
• Committee member: Domagoj Đikić (predsjednik povjerenstva)
• Committee member: Dubravka Švob Štrac (član povjerenstva)
• Committee member: Damjan Franjević (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2012-02-16, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

GABAA receptori posreduju akutne i kronične učinke alkohola uključujući toleranciju, ovisnost, te sindrom ustezanja. Noviji rezultati upućuju na povezanost alkoholizma i gena GABRA2 koji kodira α2 podjedinicu GABAA receptora, smještenom na kromosomu 4, a posebice na polimorfizme u blizini susjednog gena GABRG1 koji kodira γ1 podjedinicu. Cilj istraživanja bio je ispitati povezanost polimorfizma rs567926, smještenog između gena GABRA2 i GABRG1 sa alkoholizmom i povezanim ponašanjima, poput pušenja, početka zlouporabe alkohola, agresivnog ponašanja i pokušaja samoubojstva. U istraživanju je genotipizirano 335 ovisnika o alkoholu i 230 kontrolnih ispitanika iz hrvatske populacije. Iako nije pronađena povezanost biljega rs567926 sa ovisnošću o alkoholu i nikotinu, niti sa ponašanjem povezanim sa alkoholizmom, utvrđena je haplotipska povezanost biljega rs567926 i rs279858, kao i povezanost pojedinih haplotipova sa specifičnim fenotipovima unutar skupine ispitanika s alkoholizmom. U svrhu razjašnjavanja uloge gena GABRA2 u razvoju ovisnosti o alkoholu i u ponašanju povezanim sa alkoholizmom, potrebna su daljnja istraživanja.

Abstract (english)

GABAA receptors mediate acute and chronic effects of alcohol, including alcohol tolerance, dependence and withdrawal. The results suggested the association of alcoholism with GABRA2 gene encoding the GABAA receptor α2 subunit located on chromosome 4, especially with polymorphisms near the neighboring GABRG1 gene, which encodes the γ1 subunit. The aim of this study was to examine the association of polymorphism rs567926, located between GABRG1 and GABRA2 genes, with alcoholism and related behavior, including smoking, onset of alcohol abuse, aggressive behavior and suicide attempt. We genotyped 335 alcohol-dependent and 230 control subjects from Croatian population. Although the results demonstrated no association of marker rs567926 with alcohol and nicotine addiction or alcoholism-associated behaviour, we found haplotypic association between markers rs567926 and rs279858, and association of some haplotypes with specific phenotypes of alcohol-dependent patients. Further research is needed in order to elucidate the role of GABRA2 gene in alcohol dependence and alcoholism-associated behavior.

• Keywords: alkoholizam; GABRA2; GABRG1; genetika; polimorfizam; rs567926; haplotip
• Keywords (english): alcoholism; GABRA2; GABRG1; genetics; polymorphism; rs567926; haplotype
• Language: croatian
• URN:NBN: urn:nbn:hr:217:759639
• Study programme: Title: Experimental Biology; Study programme type: university; Study level: graduate; Academic / professional title: magistar/magistra eksperimentalne biologije (magistar/magistra eksperimentalne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Access restricted to students and staff of home institution
• Created on: 2017-05-02 11:28:53