Research ArticleHUMAN GENETICS

A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation

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Science Advances  05 Feb 2021:
Vol. 7, no. 6, eabc6160
DOI: 10.1126/sciadv.abc6160

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vol. 7 no. 6

PubMed: 
Online ISSN: 
History: 
  • Received for publication May 5, 2020
  • Accepted for publication December 17, 2020
  • .

Author Information

  1. Betty Bonfante1,*,
  2. Pierre Faux1,*,
  3. Nicolas Navarro2,3,
  4. Javier Mendoza-Revilla4,5,
  5. Morgane Dubied2,
  6. Charlotte Montillot6,
  7. Emma Wentworth7,
  8. Lauriane Poloni2,3,
  9. Ceferino Varón-González8,
  10. Philip Jones9,
  11. Ziyi Xiong10,
  12. Macarena Fuentes-Guajardo11,
  13. Sagnik Palmal1,
  14. Juan Camilo Chacón-Duque12,
  15. Malena Hurtado4,
  16. Valeria Villegas4,
  17. Vanessa Granja4,
  18. Claudia Jaramillo13,
  19. William Arias13,
  20. Rodrigo Barquera14,15,
  21. Paola Everardo-Martínez14,
  22. Mirsha Sánchez-Quinto16,
  23. Jorge Gómez-Valdés14,
  24. Hugo Villamil-Ramírez17,
  25. Caio C. Silva de Cerqueira18,
  26. Tábita Hünemeier19,
  27. Virginia Ramallo20,21,
  28. Fan Liu10,22,23,
  29. Seth M. Weinberg24,25,26,
  30. John R. Shaffer24,25,
  31. Evie Stergiakouli27,28,
  32. Laurence J. Howe27,
  33. Pirro G. Hysi29,
  34. Timothy D. Spector29,
  35. Rolando Gonzalez-José21,
  36. Lavinia Schüler-Faccini20,
  37. Maria-Cátira Bortolini20,
  38. Victor Acuña-Alonzo14,
  39. Samuel Canizales-Quinteros17,
  40. Carla Gallo4,
  41. Giovanni Poletti4,
  42. Gabriel Bedoya13,
  43. Francisco Rothhammer30,
  44. Christel Thauvin-Robinet6,31,
  45. Laurence Faivre6,31,
  46. Caroline Costedoat1,
  47. David Balding9,32,
  48. Timothy Cox33,
  49. Manfred Kayser10,
  50. Laurence Duplomb6,
  51. Binnaz Yalcin6,
  52. Justin Cotney7,
  53. Kaustubh Adhikari34,9, and
  54. Andrés Ruiz-Linares1,9,35,
  1. 1Aix-Marseille Université, CNRS, EFS, ADES, Marseille 13005, France.
  2. 2Biogéosciences, UMR 6282 CNRS, EPHE, Université Bourgogne Franche-Comté, Dijon 21078, France.
  3. 3EPHE, PSL University, Paris 75014, France.
  4. 4Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, 31, Perú.
  5. 5Unit of Human Evolutionary Genetics, Institut Pasteur, Paris 75015, France.
  6. 6INSERM UMR 1231 Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon 21000, France.
  7. 7Department of Genetics and Genome Sciences, University of Connecticut Health, Farmington, CT 06030, USA.
  8. 8Institut de Systématique, Évolution, Biodiversité, ISYEB–UMR 7205–CNRS, MNHN, UPMC, EPHE, UA, Muséum National d’Histoire Naturelle, Sorbonne Universités, Paris 75005, France.
  9. 9Department of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London WC1E 6BT, UK.
  10. 10Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam 3015GD, Netherlands.
  11. 11Departamento de Tecnología Médica, Facultad de Ciencias de la Salud, Universidad de Tarapacá, Arica 1000000, Chile.
  12. 12Division of Vertebrates and Anthropology, Department of Earth Sciences, Natural History Museum, London SW7 5BD, UK.
  13. 13GENMOL (Genética Molecular), Universidad de Antioquia, Medellín 5001000, Colombia.
  14. 14Molecular Genetics Laboratory, National School of Anthropology and History, Mexico City 14050, Mexico.
  15. 15Department of Archaeogenetics, Max Planck Institute for the Science of Human History (MPI-SHH), Jena 07745, Germany.
  16. 16Forensic Science, Faculty of Medicine, UNAM (Universidad Nacional Autónoma de México), Mexico City 06320, Mexico.
  17. 17Unidad de Genomica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica, Mexico City 4510, Mexico.
  18. 18Scientific Police of São Paulo State, Ourinhos-SP 19900-109, Brazil.
  19. 19Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP 05508-090, Brazil.
  20. 20Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre 90040-060, Brasil.
  21. 21Instituto Patagónico de Ciencias Sociales y Humanas, Centro Nacional Patagónico, CONICET, Puerto Madryn U9129ACD, Argentina.
  22. 22Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100864, China.
  23. 23University of Chinese Academy of Sciences, Beijing 100864, China.
  24. 24Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15260, USA.
  25. 25Center for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA 15260, USA.
  26. 26Department of Anthropology, University of Pittsburgh, Pittsburgh, PA 15260, USA.
  27. 27Medical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol BS1 2LY, UK.
  28. 28School of Oral and Dental Sciences, University of Bristol, Bristol BS1 2LY, UK.
  29. 29Department of Twin Research and Genetic Epidemiology, King’s College London, London WC2R 2LS, UK.
  30. 30Instituto de Alta Investigación, Universidad de Tarapacá, Arica, Arica 1000000, Chile.
  31. 31Centre de Référence Maladies Rares "Anomalies du Développement et Syndromes Malformatifs" de l’Est, Centre de Génétique, FHU TRANSLAD, CHU Dijon, Dijon 21000, France.
  32. 32Melbourne Integrative Genomics, Schools of BioSciences and Mathematics & Statistics, University of Melbourne, Melbourne, VIC 3052, Australia.
  33. 33Department of Oral and Craniofacial Sciences, School of Dentistry and Department of Pediatrics, School of Medicine, University of Missouri, Kansas City, MO 64108, USA.
  34. 34School of Mathematics and Statistics, Faculty of Science, Technology, Engineering and Mathematics, The Open University, Milton Keynes MK7 6AA, UK.
  35. 35Ministry 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, Yangpu District, Shanghai, China.
  1. Corresponding author. Email: andresruiz{at}fudan.edu.cn (A.R.-L.); kaustubh.adhikari{at}open.ac.uk (K.A.)
  • * These authors contributed equally to this work.

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