Association of genetic variants with self-assessed color categories in Brazilians.

The Brazilian population was formed by extensive admixture of three different ancestral roots: Amerindians, Europeans and Africans. Our previous work has shown that at an individual level, ancestry, as estimated using molecular markers, was a poor predictor of color in Brazilians. We now investigate...

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Autores principales: Danielle Fernandes Durso, Sergio Paulo Bydlowski, Mara Helena Hutz, Guilherme Suarez-Kurtz, Tiago R Magalhães, Sérgio Danilo Junho Pena
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spelling oai:doaj.org-article:18ebd9ef67a742138bee077948496efc2021-11-18T08:38:38ZAssociation of genetic variants with self-assessed color categories in Brazilians.1932-620310.1371/journal.pone.0083926https://doaj.org/article/18ebd9ef67a742138bee077948496efc2014-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24416183/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203The Brazilian population was formed by extensive admixture of three different ancestral roots: Amerindians, Europeans and Africans. Our previous work has shown that at an individual level, ancestry, as estimated using molecular markers, was a poor predictor of color in Brazilians. We now investigate if SNPs known to be associated with human skin pigmentation can be used to predict color in Brazilians. For that, we studied the association of fifteen SNPs, previously known to be linked with skin color, in 243 unrelated Brazilian individuals self-identified as White, Browns or Blacks from Rio de Janeiro and 212 unrelated Brazilian individuals self-identified as White or Blacks from São Paulo. The significance of association of SNP genotypes with self-assessed color was evaluated using partial regression analysis. After controlling for ancestry estimates as covariates, only four SNPs remained significantly associated with skin pigmentation: rs1426654 and rs2555364 within SLC24A5, rs16891982 at SLC45A2 and rs1042602 at TYR. These loci are known to be involved in melanin synthesis or transport of melanosomes. We found that neither genotypes of these SNPs, nor their combination with biogeographical ancestry in principal component analysis, could predict self-assessed color in Brazilians at an individual level. However, significant correlations did emerge at group level, demonstrating that even though elements other than skin, eye and hair pigmentation do influence self-assessed color in Brazilians, the sociological act of self-classification is still substantially dependent of genotype at these four SNPs.Danielle Fernandes DursoSergio Paulo BydlowskiMara Helena HutzGuilherme Suarez-KurtzTiago R MagalhãesSérgio Danilo Junho PenaPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 9, Iss 1, p e83926 (2014)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Danielle Fernandes Durso
Sergio Paulo Bydlowski
Mara Helena Hutz
Guilherme Suarez-Kurtz
Tiago R Magalhães
Sérgio Danilo Junho Pena
Association of genetic variants with self-assessed color categories in Brazilians.
description The Brazilian population was formed by extensive admixture of three different ancestral roots: Amerindians, Europeans and Africans. Our previous work has shown that at an individual level, ancestry, as estimated using molecular markers, was a poor predictor of color in Brazilians. We now investigate if SNPs known to be associated with human skin pigmentation can be used to predict color in Brazilians. For that, we studied the association of fifteen SNPs, previously known to be linked with skin color, in 243 unrelated Brazilian individuals self-identified as White, Browns or Blacks from Rio de Janeiro and 212 unrelated Brazilian individuals self-identified as White or Blacks from São Paulo. The significance of association of SNP genotypes with self-assessed color was evaluated using partial regression analysis. After controlling for ancestry estimates as covariates, only four SNPs remained significantly associated with skin pigmentation: rs1426654 and rs2555364 within SLC24A5, rs16891982 at SLC45A2 and rs1042602 at TYR. These loci are known to be involved in melanin synthesis or transport of melanosomes. We found that neither genotypes of these SNPs, nor their combination with biogeographical ancestry in principal component analysis, could predict self-assessed color in Brazilians at an individual level. However, significant correlations did emerge at group level, demonstrating that even though elements other than skin, eye and hair pigmentation do influence self-assessed color in Brazilians, the sociological act of self-classification is still substantially dependent of genotype at these four SNPs.
format article
author Danielle Fernandes Durso
Sergio Paulo Bydlowski
Mara Helena Hutz
Guilherme Suarez-Kurtz
Tiago R Magalhães
Sérgio Danilo Junho Pena
author_facet Danielle Fernandes Durso
Sergio Paulo Bydlowski
Mara Helena Hutz
Guilherme Suarez-Kurtz
Tiago R Magalhães
Sérgio Danilo Junho Pena
author_sort Danielle Fernandes Durso
title Association of genetic variants with self-assessed color categories in Brazilians.
title_short Association of genetic variants with self-assessed color categories in Brazilians.
title_full Association of genetic variants with self-assessed color categories in Brazilians.
title_fullStr Association of genetic variants with self-assessed color categories in Brazilians.
title_full_unstemmed Association of genetic variants with self-assessed color categories in Brazilians.
title_sort association of genetic variants with self-assessed color categories in brazilians.
publisher Public Library of Science (PLoS)
publishDate 2014
url https://doaj.org/article/18ebd9ef67a742138bee077948496efc
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