Genotypic variation in CYP2E1, GCKR, and PNPLA3 among nonalcoholic steatohepatitis patients of Turkish origin

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dc.authoridHusseini, Abbas Ali/0000-0002-8861-7106
dc.contributor.authorHusseini, Abbas Ali
dc.date.accessioned2024-09-11T19:50:22Z
dc.date.available2024-09-11T19:50:22Z
dc.date.issued2024
dc.departmentİstanbul Gelişim Üniversitesien_US
dc.description.abstractBackgroundThis study examines genetic variations in CYP2E1 (rs6413432, rs3813867), GCKR (rs780094, rs1260326), and PNPLA3 (rs738409) among Turkish patients to assess their influence on nonalcoholic steatohepatitis.MethodsAllele and genotype frequencies were compared between 245 NASH patients and 120 healthy controls using SNP genotyping via polymerase chain reaction-restriction fragment length polymorphism. Additionally, the deviation of the observed genotype frequencies from Hardy-Weinberg proportion was examined.ResultsNo significant differences were found in the allelic and genotypic distributions of rs6413432, rs3813867, and rs780094 between NASH patients and healthy controls. However, significant disparities were noted for rs1260326 and rs738409. Gender and age-specific distributions showed no notable differences. The only observed deviation from Hardy-Weinberg proportion was in the genotype frequency of rs738409.ConclusionsVariants in GCKR (rs1260326) and PNPLA3 (rs738409) are significantly associated with increased NASH risk in the Turkish population, with the rs738409 variant potentially playing a more prominent role in NASH development.en_US
dc.description.sponsorshipDAS:The authors confirm that all data supporting the finding of the study are available within the article, and the raw data supporting the findings were generated and available at the corresponding author on request.en_US
dc.identifier.doi10.1007/s11033-024-09787-w
dc.identifier.issn0301-4851
dc.identifier.issn1573-4978
dc.identifier.issue1en_US
dc.identifier.pmid39042259en_US
dc.identifier.scopus2-s2.0-85199302723en_US
dc.identifier.urihttps://doi.org/10.1007/s11033-024-09787-w
dc.identifier.urihttps://hdl.handle.net/11363/7617
dc.identifier.volume51en_US
dc.identifier.wosWOS:001275388500010en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofMolecular Biology Reportsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmz20240903_Gen_US
dc.subjectSingle nucleotide polymorphismen_US
dc.subjectNonalcoholic steatohepatitisen_US
dc.subjectTurkish populationen_US
dc.subjectHardy-Weinberg proportionen_US
dc.titleGenotypic variation in CYP2E1, GCKR, and PNPLA3 among nonalcoholic steatohepatitis patients of Turkish originen_US
dc.typeArticleen_US

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