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PLoS One. 2014 May 8;9(5):e96886. doi: 10.1371/journal.pone.0096886. eCollection 2014.

Implications of the admixture process in skin color molecular assessment.

Author information

1
Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
2
Laboratorio de Antropología Física, Departamento de Anatomía, Facultad de Medicina, Universidad Nacional Autónoma de Mexico, Mexico City, Mexico.
3
Departamento de Ciências Biológicas, Universidade Estadual do Sudoeste da Bahia, Jequié, Brazil.
4
Instituto Federal de Educação, Ciência e Tecnologia Farroupilha, Alegrete, Brazil.
5
Instituto de Alta Investigación, Universidad de Tarapacá, Facultad de Medicina, Universidad de Chile and Centro de Investigaciones del Hombre en el Desierto, Arica, Chile.
6
Universidad de Antioquia, Medellín, Colombia.
7
Unidad de Genómica de Poblaciones Aplicada a la Salud, Facultad de Química, Universidad Nacional Autónoma de México, Mexico City, Mexico; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.
8
Molecular Genetics Laboratory, Escuela Nacional de Antropología e Historia, Mexico City, Mexico.
9
Laboratorio de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú
10
Centro Nacional Patagónico, CONICET, Puerto Madryn, Argentina.
11
Departamento de Estatística, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
12
Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Departamento de Estatística, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
13
Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; INAGEMP - Instituto Nacional de Genética Médica Populacional, Porto Alegre, Brazil.
14
Department of Genetics, Evolution and Environment and UCL Genetics Institute, University College London, London, United Kingdom.

Erratum in

  • PLoS One. 2014;9(9):e109451.

Abstract

The understanding of the complex genotype-phenotype architecture of human pigmentation has clear implications for the evolutionary history of humans, as well as for medical and forensic practices. Although dozens of genes have previously been associated with human skin color, knowledge about this trait remains incomplete. In particular, studies focusing on populations outside the European-North American axis are rare, and, until now, admixed populations have seldom been considered. The present study was designed to help fill this gap. Our objective was to evaluate possible associations of 18 single nucleotide polymorphisms (SNPs), located within nine genes, and one pseudogene with the Melanin Index (MI) in two admixed Brazilian populations (Gaucho, N = 352; Baiano, N = 148) with different histories of geographic and ethnic colonization. Of the total sample, four markers were found to be significantly associated with skin color, but only two (SLC24A5 rs1426654, and SLC45A2 rs16891982) were consistently associated with MI in both samples (Gaucho and Baiano). Therefore, only these 2 SNPs should be preliminarily considered to have forensic significance because they consistently showed the association independently of the admixture level of the populations studied. We do not discard that the other two markers (HERC2 rs1129038 and TYR rs1126809) might be also relevant to admixed samples, but additional studies are necessary to confirm the real importance of these markers for skin pigmentation. Finally, our study shows associations of some SNPs with MI in a modern Brazilian admixed sample, with possible applications in forensic genetics. Some classical genetic markers in Euro-North American populations are not associated with MI in our sample. Our results point out the relevance of considering population differences in selecting an appropriate set of SNPs as phenotype predictors in forensic practice.

PMID:
24809478
PMCID:
PMC4014568
DOI:
10.1371/journal.pone.0096886
[Indexed for MEDLINE]
Free PMC Article

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