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Novel genetic loci affecting facial shape variation in humans.
Xiong, Ziyi; Dankova, Gabriela; Howe, Laurence J; Lee, Myoung Keun; Hysi, Pirro G; de Jong, Markus A; Zhu, Gu; Adhikari, Kaustubh; Li, Dan; Li, Yi; Pan, Bo; Feingold, Eleanor; Marazita, Mary L; Shaffer, John R; McAloney, Kerrie; Xu, Shu-Hua; Jin, Li; Wang, Sijia; de Vrij, Femke Ms; Lendemeijer, Bas; Richmond, Stephen; Zhurov, Alexei; Lewis, Sarah; Sharp, Gemma C; Paternoster, Lavinia; Thompson, Holly; Gonzalez-Jose, Rolando; Bortolini, Maria Catira; Canizales-Quinteros, Samuel; Gallo, Carla; Poletti, Giovanni; Bedoya, Gabriel; Rothhammer, Francisco; Uitterlinden, André G; Ikram, M Arfan; Wolvius, Eppo; Kushner, Steven A; Nijsten, Tamar Ec; Palstra, Robert-Jan Ts; Boehringer, Stefan; Medland, Sarah E; Tang, Kun; Ruiz-Linares, Andres; Martin, Nicholas G; Spector, Timothy D; Stergiakouli, Evie; Weinberg, Seth M; Liu, Fan; Kayser, Manfred.
Afiliação
  • Xiong Z; Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
  • Dankova G; Department of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
  • Howe LJ; CAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, University of Chinese Academy of Sciences (CAS), Beijing, China.
  • Lee MK; Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
  • Hysi PG; Medical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, United Kingdom.
  • de Jong MA; Center for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, Pittsburgh, United States.
  • Zhu G; Department of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom.
  • Adhikari K; Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
  • Li D; Department of Oral & Maxillofacial Surgery, Special Dental Care, and Orthodontics, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
  • Li Y; Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, Netherlands.
  • Pan B; QIMR Berghofer Medical Research Institute, Brisbane, Australia.
  • Feingold E; Department of Genetics, Evolution, and Environment, University College London, London, United Kingdom.
  • Marazita ML; CAS Key Laboratory of Computational Biology, Chinese Academy of Sciences (CAS), Shanghai, China.
  • Shaffer JR; CAS-MPG Partner Institute for Computational Biology (PICB), Chinese Academy of Sciences (CAS), Shanghai, China.
  • McAloney K; Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences (CAS), Shanghai, China.
  • Xu SH; CAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, University of Chinese Academy of Sciences (CAS), Beijing, China.
  • Jin L; Department of Auricular Reconstruction, Plastic Surgery Hospital, Beijing, China.
  • Wang S; Center for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, Pittsburgh, United States.
  • de Vrij FM; Center for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, Pittsburgh, United States.
  • Lendemeijer B; Department of Human Genetics, University of Pittsburgh, Pittsburgh, United States.
  • Richmond S; Center for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, Pittsburgh, United States.
  • Zhurov A; Department of Human Genetics, University of Pittsburgh, Pittsburgh, United States.
  • Lewis S; QIMR Berghofer Medical Research Institute, Brisbane, Australia.
  • Sharp GC; CAS Key Laboratory of Computational Biology, Chinese Academy of Sciences (CAS), Shanghai, China.
  • Paternoster L; CAS-MPG Partner Institute for Computational Biology (PICB), Chinese Academy of Sciences (CAS), Shanghai, China.
  • Thompson H; Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences (CAS), Shanghai, China.
  • Gonzalez-Jose R; School of Life Science and Technology, ShanghaiTech University, Shanghai, China.
  • Bortolini MC; Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming, China.
  • Canizales-Quinteros S; CAS Key Laboratory of Computational Biology, Chinese Academy of Sciences (CAS), Shanghai, China.
  • Gallo C; CAS-MPG Partner Institute for Computational Biology (PICB), Chinese Academy of Sciences (CAS), Shanghai, China.
  • Poletti G; Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences (CAS), Shanghai, China.
  • Bedoya G; State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, China.
  • Rothhammer F; Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.
  • Uitterlinden AG; CAS Key Laboratory of Computational Biology, Chinese Academy of Sciences (CAS), Shanghai, China.
  • Ikram MA; CAS-MPG Partner Institute for Computational Biology (PICB), Chinese Academy of Sciences (CAS), Shanghai, China.
  • Wolvius E; Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences (CAS), Shanghai, China.
  • Kushner SA; Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming, China.
  • Nijsten TE; Department of Psychiatry, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
  • Palstra RT; Department of Psychiatry, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
  • Boehringer S; Applied Clinical Research and Public Health, University Dental School, Cardiff University, Cardiff, United Kingdom.
  • Medland SE; Applied Clinical Research and Public Health, University Dental School, Cardiff University, Cardiff, United Kingdom.
  • Tang K; Medical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, United Kingdom.
  • Ruiz-Linares A; Medical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, United Kingdom.
  • Martin NG; School of Oral and Dental Sciences, University of Bristol, Bristol, United Kingdom.
  • Spector TD; Medical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, United Kingdom.
  • Stergiakouli E; Medical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, United Kingdom.
  • Weinberg SM; Instituto Patagonico de Ciencias Sociales y Humanas, CENPAT-CONICET, Puerto Madryn, Argentina.
  • Liu F; Departamento de Genetica, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
  • Kayser M; UNAM-Instituto Nacional de Medicina Genomica, Facultad de Quimica, Unidad de Genomica de Poblaciones Aplicada a la Salud, Mexico City, Mexico.
Elife ; 82019 11 26.
Artigo em Inglês | MEDLINE | ID: mdl-31763980
ABSTRACT
The human face represents a combined set of highly heritable phenotypes, but knowledge on its genetic architecture remains limited, despite the relevance for various fields. A series of genome-wide association studies on 78 facial shape phenotypes quantified from 3-dimensional facial images of 10,115 Europeans identified 24 genetic loci reaching study-wide suggestive association (p < 5 × 10-8), among which 17 were previously unreported. A follow-up multi-ethnic study in additional 7917 individuals confirmed 10 loci including six unreported ones (padjusted < 2.1 × 10-3). A global map of derived polygenic face scores assembled facial features in major continental groups consistent with anthropological knowledge. Analyses of epigenomic datasets from cranial neural crest cells revealed abundant cis-regulatory activities at the face-associated genetic loci. Luciferase reporter assays in neural crest progenitor cells highlighted enhancer activities of several face-associated DNA variants. These results substantially advance our understanding of the genetic basis underlying human facial variation and provide candidates for future in-vivo functional studies.
Assuntos
Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Assunto principal: Fenótipo / Face / Loci Gênicos / Desenvolvimento Maxilofacial Limite: Adolescente / Adulto / Criança / Criança, pré-escolar / Feminino / Humanos / Masculino / Meia-Idade / Jovem adulto Idioma: Inglês Ano de publicação: 2019 Tipo de documento: Artigo País de afiliação: Holanda

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Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Assunto principal: Fenótipo / Face / Loci Gênicos / Desenvolvimento Maxilofacial Limite: Adolescente / Adulto / Criança / Criança, pré-escolar / Feminino / Humanos / Masculino / Meia-Idade / Jovem adulto Idioma: Inglês Ano de publicação: 2019 Tipo de documento: Artigo País de afiliação: Holanda