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Nat Commun. 2019 Jan 21;10(1):358. doi: 10.1038/s41467-018-08147-0.

A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia.

Author information

1
Department of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London, WC1E 6BT, UK.
2
Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, 31, Peru.
3
Department of Genetics, Cambridge University, Cambridge, CB2 3EH, UK.
4
Departamento de Tecnología Médica, Facultad de Ciencias de la Salud, Universidad de Tarapacá, Arica, 1000000, Chile.
5
Department of Genetics and Genome Biology, University of Leicester, Leicester, LE1 7RH, UK.
6
National Institute of Anthropology and History, Mexico City, 4510, Mexico.
7
GENMOL (Genética Molecular), Universidad de Antioquia, Medellín, 5001000, Colombia.
8
Department of Archaeogenetics, Max Planck Institute for the Science of Human History, Jena, 07745, Germany.
9
Unidad de Genomica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica, Mexico City, 4510, Mexico.
10
Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, 91501-970, Brazil.
11
Instituto Patagonico de Ciencias Sociales y Humanas, Centro Nacional Patagonico, CONICET, Puerto Madryn, U9129ACD, Argentina.
12
Instituto de Alta Investigación, Universidad de Tarapaca, Arica, 1000000, Chile.
13
Programa de Genetica Humana, ICBM, Facultad de Medicina, Universidad de Chile, Santiago, 8320000, Chile.
14
Centre for Skin Sciences, Faculty of Life Sciences, University of Bradford, Bradford, BD7 1DP, West Yorkshire, UK.
15
The Charles Institute of Dermatology, University College Dublin, Dublin, D4, Ireland.
16
Department of Life Sciences, Silwood Park campus, Imperial College London, Ascot, SL5 7PY, UK.
17
Melbourne Integrative Genomics, Schools of BioSciences and Mathematics & Statistics, University of Melbourne, Melbourne, VIC, 3010, Australia.
18
Ministry of Education Key Laboratory of Contemporary Anthropology and Collaborative Innovation Center of Genetics and Development, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, 200438, China. andresruiz@fudan.edu.cn.
19
Aix-Marseille Université, CNRS, EFS, ADES, Marseille, 13005, France. andresruiz@fudan.edu.cn.

Abstract

We report a genome-wide association scan in >6,000 Latin Americans for pigmentation of skin and eyes. We found eighteen signals of association at twelve genomic regions. These include one novel locus for skin pigmentation (in 10q26) and three novel loci for eye pigmentation (in 1q32, 20q13 and 22q12). We demonstrate the presence of multiple independent signals of association in the 11q14 and 15q13 regions (comprising the GRM5/TYR and HERC2/OCA2 genes, respectively) and several epistatic interactions among independently associated alleles. Strongest association with skin pigmentation at 19p13 was observed for an Y182H missense variant (common only in East Asians and Native Americans) in MFSD12, a gene recently associated with skin pigmentation in Africans. We show that the frequency of the derived allele at Y182H is significantly correlated with lower solar radiation intensity in East Asia and infer that MFSD12 was under selection in East Asians, probably after their split from Europeans.

PMID:
30664655
PMCID:
PMC6341102
DOI:
10.1038/s41467-018-08147-0
[Indexed for MEDLINE]
Free PMC Article

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