Unraveling CYP2E1 haplotypes in alcoholics from Central Brazil: A comparative study with 1000 genomes population

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dc.creatorRamos, Jheneffer Sonara Aguiar
dc.creatorFelício, Leandro Prado
dc.creatorAlves, Alessandro Arruda
dc.creatorLopes, Mariana Paiva
dc.creatorSoares, Thannya Nascimento
dc.creatorSilva, Daniela de Melo e
dc.date.accessioned2023-08-31T14:42:04Z
dc.date.available2023-08-31T14:42:04Z
dc.date.issued2018
dc.description.abstractWe evaluated genetic variability of single nucleotide polymorphisms (SNPs) situated in the CYP2E1 gene promoter in alcoholics. We also compared 1000 Genomes Project of CYP2E1 polymorphisms with frequencies of genotypes and haplotypes. Eight variation points were exclusively found in Brazilians. The allelic distributions of the rs3813867, rs2031920 and rs2031921 polymorphisms in the CYP2E1 showed that the wild alleles (G, C, T, respectively) had higher frequencies in both groups, alcoholic (96%, 96%, 96%) and a control group (95.8%, 94.9%, 94.9%), when compared to the mutated allele (C, T, C, respectively). The variation points, rs3813867, rs2031920 and rs2031921 showed strong linkage disequilibrium (LOD ≥ 2, D ' = 1). South Asian populations presented larger LD blocks compared to the other populations. Our results showed that the allelic frequencies were markedly different among ethnicities and have contributed to the knowledge regarding the distribution among ethnic groups, being associated to alcohol consumption worldwide.pt_BR
dc.identifier.citationRAMOS, Jheneffer Sonara Aguiar et al. Unraveling CYP2E1 haplotypes in alcoholics from Central Brazil: a comparative study with 1000 genomes population. Environmental Toxicology and Pharmacology, Amsterdam, v. 62, p. 30-39, 2018. DOI: 10.1016/j.etap.2018.06.004. Disponível em: https://www.sciencedirect.com/science/article/pii/S1382668918301479. Acesso em 30 ago. 2023.pt_BR
dc.identifier.doi10.1016/j.etap.2018.06.004
dc.identifier.issn1382-6689
dc.identifier.issne- 1872-7077
dc.identifier.urihttps://www.sciencedirect.com/science/article/pii/S1382668918301479
dc.language.isoengpt_BR
dc.publisher.countryHolandapt_BR
dc.publisher.departmentInstituto de Ciências Biológicas - ICB (RMG)pt_BR
dc.rightsAcesso Restritopt_BR
dc.subjectEthanolpt_BR
dc.subjectGenetic diversitypt_BR
dc.subjectLinkage disequilibriumpt_BR
dc.subject1000 Genomes Projectpt_BR
dc.titleUnraveling CYP2E1 haplotypes in alcoholics from Central Brazil: A comparative study with 1000 genomes populationpt_BR
dc.typeArtigopt_BR

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