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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP-
dc.contributor.authorSORTICA, Vinicius de A.-
dc.contributor.authorOJOPI, Elida B.-
dc.contributor.authorGENRO, Julia P.-
dc.contributor.authorCALLEGARI-JACQUES, Sidia-
dc.contributor.authorRIBEIRO-DOS-SANTOS, Andrea-
dc.contributor.authorMORAES, Manoel Odorico de-
dc.contributor.authorROMANO-SILVA, Marco A.-
dc.contributor.authorPENA, Sergio D. J.-
dc.contributor.authorSUAREZ-KURTZ, Guilherme-
dc.contributor.authorHUTZ, Mara H.-
dc.identifier.citationBASIC & CLINICAL PHARMACOLOGY & TOXICOLOGY, v.110, n.5, p.460-468, 2012-
dc.description.abstractThe frequency distribution of SNPs and haplotypes in the ABCB1, SLCO1B1 and SLCO1B3 genes varies largely among continental populations. This variation can lead to biases in pharmacogenetic studies conducted in admixed populations such as those from Brazil and other Latin American countries. The aim of this study was to evaluate the influence of self-reported colour, geographical origin and genomic ancestry on distributions of the ABCB1, SLCO1B1 and SLCO1B3 polymorphisms and derived haplotypes in admixed Brazilian populations. A total of 1039 healthy adults from the north, north-east, south-east and south of Brazil were recruited for this investigation. The c.388A>G (rs2306283), c.463C>A (rs11045819) and c.521T>C (rs4149056) SNPs in the SLCO1B1 gene and c.334T>G (rs4149117) and c.699G>A (rs7311358) SNPs in the SLCO1B3 gene were determined by Taqman 5'-nuclease assays. The ABCB1 c.1236C>T (rs1128503), c.2677G>T/A (rs2032582) and c.3435C>T (rs1045642) polymorphisms were genotyped using a previously described single-base extension/termination method. The results showed that genotype and haplotype distributions are highly variable among populations of the same self-reported colour and geographical region. However, genomic ancestry showed that these associations are better explained by a continuous variable. The influence of ancestry on the distribution of alleles and haplotype frequencies was more evident in variants with large differences in allele frequencies between European and African populations. Design and interpretation of pharmacogenetic studies using these transporter genes should include genomic controls to avoid spurious conclusions based on improper matching of study cohorts from Brazilian populations and other highly admixed populations.-
dc.description.sponsorshipConselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq, Brazil)-
dc.description.sponsorshipFinanciadora de Estudos e Projetos (FINEP, Brazil)-
dc.relation.ispartofBasic & Clinical Pharmacology & Toxicology-
dc.subject.othersingle nucleotide polymorphisms-
dc.subject.othermdr1 gene-
dc.subject.otheroatp transporters-
dc.titleInfluence of Genomic Ancestry on the Distribution of SLCO1B1, SLCO1B3 and ABCB1 Gene Polymorphisms among Brazilians-
dc.rights.holderCopyright WILEY-BLACKWELL-
dc.subject.wosPharmacology & Pharmacy-
dc.type.categoryoriginal article-
dc.type.versionpublishedVersion-, Sidia:Univ Fed Rio Grande do Sul, Dept Stat, BR-91501970 Porto Alegre, RS, Brazil-, Andrea:Fed Univ Para, Human & Med Genet Lab, BR-66059 Belem, Para, Brazil-, Manoel Odorico de:Univ Fed Ceara, Dept Physiol & Pharmacol, Clin Pharmacol Unit, Fortaleza, Ceara, Brazil-, Marco A.:Univ Fed Minas Gerais, Fac Med, Neurosci Lab, Natl Inst Sci & Technol Mol Med INCT MM, Belo Horizonte, MG, Brazil-, Sergio D. J.:Univ Fed Minas Gerais, Biochem & Immunol Dept, Belo Horizonte, MG, Brazil; GENE Nucleus Med Genet, Belo Horizonte, MG, Brazil-, Guilherme:Natl Inst Canc INCA, Div Pharmacol, Rio De Janeiro, RJ, Brazil-, Mara H.:Univ Fed Rio Grande do Sul, Dept Genet, Inst Biociencias, BR-91501970 Porto Alegre, RS, Brazil-
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