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

Author:

Bonfante Betty1ORCID,Faux Pierre1ORCID,Navarro Nicolas23ORCID,Mendoza-Revilla Javier45,Dubied Morgane2ORCID,Montillot Charlotte6,Wentworth Emma7,Poloni Lauriane23,Varón-González Ceferino8ORCID,Jones Philip9,Xiong Ziyi10,Fuentes-Guajardo Macarena11,Palmal Sagnik1,Chacón-Duque Juan Camilo12,Hurtado Malena4,Villegas Valeria4,Granja Vanessa4,Jaramillo Claudia13,Arias William13,Barquera Rodrigo1415ORCID,Everardo-Martínez Paola14,Sánchez-Quinto Mirsha16,Gómez-Valdés Jorge14,Villamil-Ramírez Hugo17,Silva de Cerqueira Caio C.18,Hünemeier Tábita19,Ramallo Virginia2021,Liu Fan102223ORCID,Weinberg Seth M.242526ORCID,Shaffer John R.2425,Stergiakouli Evie2728,Howe Laurence J.27,Hysi Pirro G.29ORCID,Spector Timothy D.29ORCID,Gonzalez-José Rolando21,Schüler-Faccini Lavinia20,Bortolini Maria-Cátira20,Acuña-Alonzo Victor14,Canizales-Quinteros Samuel17,Gallo Carla4,Poletti Giovanni4,Bedoya Gabriel13,Rothhammer Francisco30,Thauvin-Robinet Christel631,Faivre Laurence631,Costedoat Caroline1,Balding David932,Cox Timothy33,Kayser Manfred10,Duplomb Laurence6,Yalcin Binnaz6ORCID,Cotney Justin7,Adhikari Kaustubh934ORCID,Ruiz-Linares Andrés1935ORCID

Affiliation:

1. Aix-Marseille Université, CNRS, EFS, ADES, Marseille 13005, France.

2. Biogéosciences, UMR 6282 CNRS, EPHE, Université Bourgogne Franche-Comté, Dijon 21078, France.

3. EPHE, PSL University, Paris 75014, France.

4. Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, 31, Perú.

5. Unit of Human Evolutionary Genetics, Institut Pasteur, Paris 75015, France.

6. INSERM UMR 1231 Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon 21000, France.

7. Department of Genetics and Genome Sciences, University of Connecticut Health, Farmington, CT 06030, USA.

8. Institut de Systématique, Évolution, Biodiversité, ISYEB–UMR 7205–CNRS, MNHN, UPMC, EPHE, UA, Muséum National d’Histoire Naturelle, Sorbonne Universités, Paris 75005, France.

9. Department of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London WC1E 6BT, UK.

10. Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam 3015GD, Netherlands.

11. Departamento de Tecnología Médica, Facultad de Ciencias de la Salud, Universidad de Tarapacá, Arica 1000000, Chile.

12. Division of Vertebrates and Anthropology, Department of Earth Sciences, Natural History Museum, London SW7 5BD, UK.

13. GENMOL (Genética Molecular), Universidad de Antioquia, Medellín 5001000, Colombia.

14. Molecular Genetics Laboratory, National School of Anthropology and History, Mexico City 14050, Mexico.

15. Department of Archaeogenetics, Max Planck Institute for the Science of Human History (MPI-SHH), Jena 07745, Germany.

16. Forensic Science, Faculty of Medicine, UNAM (Universidad Nacional Autónoma de México), Mexico City 06320, Mexico.

17. Unidad de Genomica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica, Mexico City 4510, Mexico.

18. Scientific Police of São Paulo State, Ourinhos-SP 19900-109, Brazil.

19. Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP 05508-090, Brazil.

20. Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre 90040-060, Brasil.

21. Instituto Patagónico de Ciencias Sociales y Humanas, Centro Nacional Patagónico, CONICET, Puerto Madryn U9129ACD, Argentina.

22. Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100864, China.

23. University of Chinese Academy of Sciences, Beijing 100864, China.

24. Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15260, USA.

25. Center for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA 15260, USA.

26. Department of Anthropology, University of Pittsburgh, Pittsburgh, PA 15260, USA.

27. Medical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol BS1 2LY, UK.

28. School of Oral and Dental Sciences, University of Bristol, Bristol BS1 2LY, UK.

29. Department of Twin Research and Genetic Epidemiology, King’s College London, London WC2R 2LS, UK.

30. Instituto de Alta Investigación, Universidad de Tarapacá, Arica, Arica 1000000, Chile.

31. Centre de Référence Maladies Rares "Anomalies du Développement et Syndromes Malformatifs" de l’Est, Centre de Génétique, FHU TRANSLAD, CHU Dijon, Dijon 21000, France.

32. Melbourne Integrative Genomics, Schools of BioSciences and Mathematics & Statistics, University of Melbourne, Melbourne, VIC 3052, Australia.

33. Department of Oral and Craniofacial Sciences, School of Dentistry and Department of Pediatrics, School of Medicine, University of Missouri, Kansas City, MO 64108, USA.

34. School of Mathematics and Statistics, Faculty of Science, Technology, Engineering and Mathematics, The Open University, Milton Keynes MK7 6AA, UK.

35. 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, Yangpu District, Shanghai, China.

Abstract

We carried out a genome-wide association study in Latin Americans and identified novel face morphology loci..

Funder

National Institute of Dental and Craniofacial Research

Leverhulme Trust

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul

Universidad de Antioquia

BBSRC

Excellence Initiative of Aix-Marseille University - A*MIDEX

Fundação de Aperfeiçoamento de Pessoal de Nível Superior

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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