Pharmacogenomic diversity among Brazilians: Influence of ancestry, self-reported Color and geographical origin
By virtue of being the product of the genetic admixture of three ancestral roots: Europeans, Africans and Amerindians, the present day Brazilian population displays very high levels of genomic diversity, which have important pharmacogenetic/-genomic (PGx) implications. Recognition of this fact has...
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doaj-680978f8275747c8b82367caf343ae002020-11-24T23:14:53ZengFrontiers Media S.A.Frontiers in Pharmacology1663-98122012-11-01310.3389/fphar.2012.0019135862Pharmacogenomic diversity among Brazilians: Influence of ancestry, self-reported Color and geographical originGuilherme eSuarez-Kurtz0Sergio Danilo Juno Pena1Claudio José Struchiner2Mara Helena Hutz3Instituto Nacional de CancerUniversidade Federal de MInas GeraisFundação Oswaldo CruzUniversidade Federal do Rio Grande do SulBy virtue of being the product of the genetic admixture of three ancestral roots: Europeans, Africans and Amerindians, the present day Brazilian population displays very high levels of genomic diversity, which have important pharmacogenetic/-genomic (PGx) implications. Recognition of this fact has prompted the creation of the Brazilian Pharmacogenomics Network (Refargen), a nationwide consortium of research groups, with the mission to provide leadership in PGx research and education in Brazil, with a population heath impact. Here, we present original data and review published results from a Refargen comprehensive study of the distribution of PGx polymorphisms in a representative cohort of the Brazilian people, comprising 1,034 healthy, unrelated adults, self-identified as white, brown or black, according to the Color categories adopted by the Brazilian Census. Multinomial log-linear regression analysis was applied to infer the statistical association between allele, genotype and haplotype distributions among Brazilians (response variables) and self-reported Color, geographical region and biogeographical ancestry (explanatory variables), whereas Wright´s FST statistics was used to assess the extent of PGx divergence among different strata of the Brazilian population. Major PGx implications of these findings are: first, extrapolation of data from relatively well-defined ethnic groups is clearly not applicable to the majority of Brazilians; second, the frequency distribution of polymorphisms in several pharmacogenes of clinical relevance (e.g. ABCB1, CYP3A5, CYP2C9, VKORC) varies continuously among Brazilians and is not captured by race/Color self-identification; third, the intrinsic heterogeneity of the Brazilian population must be acknowledged in the design and interpretation of PGx studies in order to avoid spurious conclusions based on improper matching of study cohorts.http://journal.frontiersin.org/Journal/10.3389/fphar.2012.00191/fullbiogeographical ancestryPopulation admixtureBrazilian pharmacogenomic networkFST statistics; Pharmacogenomic diversityRefargen |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Guilherme eSuarez-Kurtz Sergio Danilo Juno Pena Claudio José Struchiner Mara Helena Hutz |
spellingShingle |
Guilherme eSuarez-Kurtz Sergio Danilo Juno Pena Claudio José Struchiner Mara Helena Hutz Pharmacogenomic diversity among Brazilians: Influence of ancestry, self-reported Color and geographical origin Frontiers in Pharmacology biogeographical ancestry Population admixture Brazilian pharmacogenomic network FST statistics; Pharmacogenomic diversity Refargen |
author_facet |
Guilherme eSuarez-Kurtz Sergio Danilo Juno Pena Claudio José Struchiner Mara Helena Hutz |
author_sort |
Guilherme eSuarez-Kurtz |
title |
Pharmacogenomic diversity among Brazilians: Influence of ancestry, self-reported Color and geographical origin |
title_short |
Pharmacogenomic diversity among Brazilians: Influence of ancestry, self-reported Color and geographical origin |
title_full |
Pharmacogenomic diversity among Brazilians: Influence of ancestry, self-reported Color and geographical origin |
title_fullStr |
Pharmacogenomic diversity among Brazilians: Influence of ancestry, self-reported Color and geographical origin |
title_full_unstemmed |
Pharmacogenomic diversity among Brazilians: Influence of ancestry, self-reported Color and geographical origin |
title_sort |
pharmacogenomic diversity among brazilians: influence of ancestry, self-reported color and geographical origin |
publisher |
Frontiers Media S.A. |
series |
Frontiers in Pharmacology |
issn |
1663-9812 |
publishDate |
2012-11-01 |
description |
By virtue of being the product of the genetic admixture of three ancestral roots: Europeans, Africans and Amerindians, the present day Brazilian population displays very high levels of genomic diversity, which have important pharmacogenetic/-genomic (PGx) implications. Recognition of this fact has prompted the creation of the Brazilian Pharmacogenomics Network (Refargen), a nationwide consortium of research groups, with the mission to provide leadership in PGx research and education in Brazil, with a population heath impact. Here, we present original data and review published results from a Refargen comprehensive study of the distribution of PGx polymorphisms in a representative cohort of the Brazilian people, comprising 1,034 healthy, unrelated adults, self-identified as white, brown or black, according to the Color categories adopted by the Brazilian Census. Multinomial log-linear regression analysis was applied to infer the statistical association between allele, genotype and haplotype distributions among Brazilians (response variables) and self-reported Color, geographical region and biogeographical ancestry (explanatory variables), whereas Wright´s FST statistics was used to assess the extent of PGx divergence among different strata of the Brazilian population. Major PGx implications of these findings are: first, extrapolation of data from relatively well-defined ethnic groups is clearly not applicable to the majority of Brazilians; second, the frequency distribution of polymorphisms in several pharmacogenes of clinical relevance (e.g. ABCB1, CYP3A5, CYP2C9, VKORC) varies continuously among Brazilians and is not captured by race/Color self-identification; third, the intrinsic heterogeneity of the Brazilian population must be acknowledged in the design and interpretation of PGx studies in order to avoid spurious conclusions based on improper matching of study cohorts. |
topic |
biogeographical ancestry Population admixture Brazilian pharmacogenomic network FST statistics; Pharmacogenomic diversity Refargen |
url |
http://journal.frontiersin.org/Journal/10.3389/fphar.2012.00191/full |
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