IDEAS home Printed from https://ideas.repec.org/a/nat/natcom/v10y2019i1d10.1038_s41467-018-08147-0.html
   My bibliography  Save this article

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

Author

Listed:
  • Kaustubh Adhikari

    (University College London)

  • Javier Mendoza-Revilla

    (University College London
    Universidad Peruana Cayetano Heredia)

  • Anood Sohail

    (Cambridge University)

  • Macarena Fuentes-Guajardo

    (University College London
    Universidad de Tarapacá)

  • Jodie Lampert

    (University of Leicester)

  • Juan Camilo Chacón-Duque

    (University College London)

  • Malena Hurtado

    (Universidad Peruana Cayetano Heredia)

  • Valeria Villegas

    (Universidad Peruana Cayetano Heredia)

  • Vanessa Granja

    (Universidad Peruana Cayetano Heredia)

  • Victor Acuña-Alonzo

    (University College London
    National Institute of Anthropology and History)

  • Claudia Jaramillo

    (Universidad de Antioquia)

  • William Arias

    (Universidad de Antioquia)

  • Rodrigo Barquera Lozano

    (National Institute of Anthropology and History
    Max Planck Institute for the Science of Human History)

  • Paola Everardo

    (National Institute of Anthropology and History)

  • Jorge Gómez-Valdés

    (National Institute of Anthropology and History)

  • Hugo Villamil-Ramírez

    (UNAM-Instituto Nacional de Medicina Genómica)

  • Caio C. Silva de Cerqueira

    (Universidade Federal do Rio Grande do Sul)

  • Tábita Hunemeier

    (Universidade Federal do Rio Grande do Sul)

  • Virginia Ramallo

    (Universidade Federal do Rio Grande do Sul
    CONICET)

  • Lavinia Schuler-Faccini

    (Universidade Federal do Rio Grande do Sul)

  • Francisco M. Salzano

    (Universidade Federal do Rio Grande do Sul)

  • Rolando Gonzalez-José

    (CONICET)

  • Maria-Cátira Bortolini

    (Universidade Federal do Rio Grande do Sul)

  • Samuel Canizales-Quinteros

    (UNAM-Instituto Nacional de Medicina Genómica)

  • Carla Gallo

    (Universidad Peruana Cayetano Heredia)

  • Giovanni Poletti

    (Universidad Peruana Cayetano Heredia)

  • Gabriel Bedoya

    (Universidad de Antioquia)

  • Francisco Rothhammer

    (Universidad de Tarapaca
    Universidad de Chile)

  • Desmond J. Tobin

    (University of Bradford
    University College Dublin)

  • Matteo Fumagalli

    (Imperial College London)

  • David Balding

    (University College London
    University of Melbourne)

  • Andrés Ruiz-Linares

    (Fudan University
    Aix-Marseille Université, CNRS, EFS, ADES)

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.

Suggested Citation

  • Kaustubh Adhikari & Javier Mendoza-Revilla & Anood Sohail & Macarena Fuentes-Guajardo & Jodie Lampert & Juan Camilo Chacón-Duque & Malena Hurtado & Valeria Villegas & Vanessa Granja & Victor Acuña-Alo, 2019. "A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia," Nature Communications, Nature, vol. 10(1), pages 1-16, December.
    • Handle: RePEc:nat:natcom:v:10:y:2019:i:1:d:10.1038_s41467-018-08147-0
    DOI: 10.1038/s41467-018-08147-0
    as

    Download full text from publisher

    File URL: https://www.nature.com/articles/s41467-018-08147-0
    File Function: Abstract
    Download Restriction: no
    File URL: https://libkey.io/10.1038/s41467-018-08147-0?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    Citations

    Citations are extracted by the CitEc Project, subscribe to its RSS feed for this item.
    as


    Cited by:

    1. Beomsu Kim & Dan Say Kim & Joong-Gon Shin & Sangseob Leem & Minyoung Cho & Hanji Kim & Ki-Nam Gu & Jung Yeon Seo & Seung Won You & Alicia R. Martin & Sun Gyoo Park & Yunkwan Kim & Choongwon Jeong & Na, 2024. "Mapping and annotating genomic loci to prioritize genes and implicate distinct polygenic adaptations for skin color," Nature Communications, Nature, vol. 15(1), pages 1-16, December.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:nat:natcom:v:10:y:2019:i:1:d:10.1038_s41467-018-08147-0. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    We have no bibliographic references for this item. You can help adding them by using this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.nature.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.