Title
A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia
Date Issued
2019
Access level
open access
Resource Type
journal article
Author(s)
Adhikari K.
Sohail A.
Fuentes-Guajardo M.
Lampert J.
Chacón-Duque J.C.
Hurtado M.
Granja V.
Acuña-Alonzo V.
Jaramillo C.
Arias W.
Lozano R.B.
Everardo P.
Gómez-Valdés J.
Villamil-Ramírez H.
Silva de Cerqueira C.C.
Hunemeier T.
Ramallo V.
Schuler-Faccini L.
Salzano F.M.
Bortolini M.-C.
Canizales-Quinteros S.
Bedoya G.
Rothhammer F.
Tobin D.J.
Fumagalli M.
Balding D.
Publisher(s)
Nature Publishing Group
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. © 2019, The Author(s).
Volume
10
Issue
1
Number
71
Language
English
Subjects
Scopus EID
2-s2.0-85060188734
PubMed ID
Source
Nature Communications
ISSN of the container
2041-1723
Sponsor(s)
We would like to dedicate this paper to Francisco M. Salzano. We thank the volunteers for their enthusiastic support for this research. We also thank Alvaro Alvarado, Mónica Bal-lesteros Romero, Ricardo Cebrecos, Miguel Ángel Contreras Sieck, Francisco de Ávila Becerril, Joyce De la Piedra, María Teresa Del Solar, Paola Everardo Martínez, William Flores, Martha Granados Riveros, Rosilene Paim, Ricardo Gunski, Sergeant João Felisberto Menezes Cavalheiro, Major Eugênio Correa de Souza Junior, Wendy Hart, Ilich Jafet Moreno, Paola León-Mimila, Francisco Quispealaya, Diana Rogel Diaz, Ruth Rojas, and Vanessa Sarabia for assistance with volunteer recruitment, sample processing and data entry. We also thank Richard Baker (Centre for Skin Sciences, University of Bradford) for technical assistance with the human skin immunofluorescence, Lewis Griffin (UCL Centre for Computer Science) for assistance in the development of iris color assessment and Emiliano Bellini for the face illustrations in Fig. 3. We also thank Louise Ormond and Aida Andres for helpful discussion on the ABC analysis (UCL Genetics Institute). We are very grateful to the institutions that allowed the use of their facilities for the assessment of volunteers, including: Escuela Nacional de Antropología e Historia and Universidad Nacional Autónoma de México (México); Universidade Federal do Rio Grande do Sul (Brazil); 13° Companhia de Comunicações Mecanizada do Exército Brasileiro (Brazil); Pontificia Universidad Católica del Perú, Universidad de Lima and Universidad Nacional Mayor de San Marcos (Perú). Work leading to this publication was funded by grants from: the Leverhulme Trust (F/07 134/DF), BBSRC (BB/I021213/1), the Excellence Initiative of Aix-Marseille University–A*MIDEX (a French 'Investissements d’Avenir' programme), Universidad de Antioquia (CODI sostenibilidad de grupos 2013–2014 and MASO 2013–2014), Conselho Nacional de Desenvolvimento Científico e Tecnológico, Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul (Apoio a Núcleos de Excelência Program) and Fundação de Aperfeiçoamento de Pessoal de Nível Superior. J.M.-R. was supported by a doctoral scholarship from CONCYTEC-PERU (224–2014-FONDECYT).
Sources of information:
Directorio de Producción Científica