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


We 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.



Ethanol, Genetic diversity, Linkage disequilibrium, 1000 Genomes Project


RAMOS, 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.