Title
Genetic structure of pharmacogenetic biomarkers in Brazil inferred from a systematic review and population-based cohorts: a RIBEF/EPIGEN-Brazil initiative
Date Issued
01 December 2018
Access level
metadata only access
Resource Type
journal article
Author(s)
Rodrigues-Soares F.
Kehdy F.S.G.
Sampaio-Coelho J.
Andrade P.X.C.
Céspedes-Garro C.
Zolini C.
Aquino M.M.
Barreto M.L.
Horta B.L.
Lima-Costa M.F.
Pereira A.C.
LLerena A.
Universidade Federal de Minas Gerais
Publisher(s)
Nature Publishing Group
Abstract
We present allele frequencies involving 39 pharmacogenetic biomarkers studied in Brazil, and their distribution on self-reported race/color categories that: (1) involve a mix of perceptions about ancestry, morphological traits, and cultural/identity issues, being social constructs pervasively used in Brazilian society and medical studies; (2) are associated with disparities in access to health services, as well as in their representation in genetic studies, and (3), as we report here, explain a larger portion of the variance of pharmaco-allele frequencies than geography. We integrated a systematic review of studies on healthy volunteers (years 1968–2017) and the analysis of allele frequencies on three population-based cohorts from northeast, southeast, and south, the most populated regions of Brazil. Cross-validation of results from these both approaches suggest that, despite methodological heterogeneity of the 120 studies conducted on 51,747 healthy volunteers, allele frequencies estimates from systematic review are reliable. We report differences in allele frequencies between color categories that persist despite the homogenizing effect of >500 years of admixture. Among clinically relevant variants: CYP2C9*2 (null), CYP3A5*3 (defective), SLCO1B1-rs4149056(C), and VKORC1-rs9923231(A) are more frequent in Whites than in Blacks. Brazilian Native Americans show lower frequencies of CYP2C9*2, CYP2C19*17 (increased activity), and higher of SLCO1B1-rs4149056(C) than other Brazilian populations. We present the most current and informative database of pharmaco-allele frequencies in Brazilian healthy volunteers.
Start page
749
End page
759
Volume
18
Issue
6
Language
English
OCDE Knowledge area
Genética, Herencia
Subjects
Scopus EID
2-s2.0-85046070260
PubMed ID
Source
Pharmacogenomics Journal
ISSN of the container
1470269X
Sources of information:
Directorio de Producción Científica
Scopus