Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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31763980
TITLE
Novel genetic loci affecting facial shape variation in humans.
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 ), among which 17 were previously unreported. A follow-up multi-ethnic study in additional 7917 individuals confirmed 10 loci including six unreported ones (p < 2.1 × 10 ). 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 -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.
2019, Xiong et al.
DATE PUBLISHED
2019 11 26
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2019/07/03
accepted 2019/11/22
pubmed 2019/11/26 06:00
medline 2019/11/26 06:00
entrez 2019/11/26 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Xiong Z Xiong Ziyi Z CAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, University of Chinese Academy of Sciences (CAS), Beijing, China.
Dankova G Dankova Gabriela G Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Howe LJ Howe Laurence J LJ Medical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, United Kingdom.
Lee MK Lee Myoung Keun MK Center for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, Pittsburgh, United States.
Hysi PG Hysi Pirro G PG Department of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom.
de Jong MA de Jong Markus A MA Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, Netherlands.
Zhu G Zhu Gu G QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Adhikari K Adhikari Kaustubh K Department of Genetics, Evolution, and Environment, University College London, London, United Kingdom.
Li D Li Dan D Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences (CAS), Shanghai, China.
Li Y Li Yi Y CAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, University of Chinese Academy of Sciences (CAS), Beijing, China.
Pan B Pan Bo B Department of Auricular Reconstruction, Plastic Surgery Hospital, Beijing, China.
Feingold E Feingold Eleanor E Center for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, Pittsburgh, United States.
Marazita ML Marazita Mary L ML Department of Human Genetics, University of Pittsburgh, Pittsburgh, United States.
Shaffer JR Shaffer John R JR Department of Human Genetics, University of Pittsburgh, Pittsburgh, United States.
McAloney K McAloney Kerrie K QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Xu SH Xu Shu-Hua SH Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming, China.
Jin L Jin Li L Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.
Wang S Wang Sijia S Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming, China.
de Vrij FM de Vrij Femke Ms FM Department of Psychiatry, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Lendemeijer B Lendemeijer Bas B Department of Psychiatry, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Richmond S Richmond Stephen S Applied Clinical Research and Public Health, University Dental School, Cardiff University, Cardiff, United Kingdom.
Zhurov A Zhurov Alexei A Applied Clinical Research and Public Health, University Dental School, Cardiff University, Cardiff, United Kingdom.
Lewis S Lewis Sarah S Medical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, United Kingdom.
Sharp GC Sharp Gemma C GC School of Oral and Dental Sciences, University of Bristol, Bristol, United Kingdom.
Paternoster L Paternoster Lavinia L Medical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, United Kingdom.
Thompson H Thompson Holly H Medical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, United Kingdom.
Gonzalez-Jose R Gonzalez-Jose Rolando R Instituto Patagonico de Ciencias Sociales y Humanas, CENPAT-CONICET, Puerto Madryn, Argentina.
Bortolini MC Bortolini Maria Catira MC Departamento de Genetica, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Canizales-Quinteros S Canizales-Quinteros Samuel S UNAM-Instituto Nacional de Medicina Genomica, Facultad de Quımica, Unidad de Genomica de Poblaciones Aplicada a la Salud, Mexico City, Mexico.
Gallo C Gallo Carla C Laboratorios de Investigacion y Desarrollo, Facultad de Ciencias y Filosofıa, Universidad Peruana Cayetano Heredia, Lima, Peru.
Poletti G Poletti Giovanni G Laboratorios de Investigacion y Desarrollo, Facultad de Ciencias y Filosofıa, Universidad Peruana Cayetano Heredia, Lima, Peru.
Bedoya G Bedoya Gabriel G GENMOL (Genetica Molecular), Universidad de Antioquia, Medellın, Colombia.
Rothhammer F Rothhammer Francisco F Instituto de Alta Investigacion, Universidad de Tarapaca, Arica, Chile.
Uitterlinden AG Uitterlinden André G AG Department of Internal Medicine, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Ikram MA Ikram M Arfan MA Department of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Wolvius E Wolvius Eppo E Department of Oral & Maxillofacial Surgery, Special Dental Care, and Orthodontics, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Kushner SA Kushner Steven A SA Department of Psychiatry, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Nijsten TE Nijsten Tamar Ec TE Department of Dermatology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Palstra RT Palstra Robert-Jan Ts RT Department of Biochemistry, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Boehringer S Boehringer Stefan S Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, Netherlands.
Medland SE Medland Sarah E SE QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Tang K Tang Kun K Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences (CAS), Shanghai, China.
Ruiz-Linares A Ruiz-Linares Andres A Aix-Marseille Université, CNRS, EFS, ADES, Marseille, France.
Martin NG Martin Nicholas G NG QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Spector TD Spector Timothy D TD Department of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom.
Stergiakouli E Stergiakouli Evie E School of Oral and Dental Sciences, University of Bristol, Bristol, United Kingdom.
Weinberg SM Weinberg Seth M SM Department of Anthropology, University of Pittsburgh, Pittsburgh, United States.
Liu F Liu Fan F CAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, University of Chinese Academy of Sciences (CAS), Beijing, China.
Kayser M Kayser Manfred M Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
International Visible Trait Genetics (VisiGen) Consortium
INVESTIGATORS
LASTNAME FORENAME INITIALS AFFILIATION
On Behalf Of The International Visible Trait Genetics VisiGen Consortium
JOURNAL
VOLUME: 8
ISSUE:
TITLE: eLife
ISOABBREVIATION: Elife
YEAR: 2019
MONTH: 11
DAY: 26
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 2050-084X
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Elife
COUNTRY: England
ISSNLINKING: 2050-084X
NLMUNIQUEID: 101579614
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
31271338 National Natural Science Foundation of China International
R01 DE027023 NIDCR NIH HHS United States
APP103119 National Health and Medical Research Council International
2017YFC0803501-Z04 National Key Research and Development Program China International
R01-DE027023 NIDCR NIH HHS United States
PhD Fellowship China Scholarship Council International
102215/2/13/2 Medical Research Council United Kingdom
U01-DE020078 NIDCR NIH HHS United States
31711530221 National Natural Science Foundation of China International
F/07 134/DF Leverhulme Trust International
2015FY111700 National Basic Research Program of China International
31771388 National Natural Science Foundation of China International
911-03-012 Netherlands Organisation for Scientific Research International
91731303 National Natural Science Foundation of China International
31711530331 National Natural Science Foundation of China International
APP1103623 Australian NHMRC Fellowship International
16JC1400504 Science and Technology Commission of Shanghai Municipality International
2017YFC083501 National Key R&D Program of China International
U01 DE020078 NIDCR NIH HHS United States
91651507 National Science Foundation of China International
2016YFC0906403 National Key Research and Development Program China International
National Key R&D Program of China (2017YFC083501) Ministry of Science and Technology of the People's Republic of China International
30890034 National Natural Science Foundation of China International
050-060-810 Netherlands Organisation for Scientific Research International
R01-DE016148 NIDCR NIH HHS United States
911-03-012 Netherlands Organization of Scientific Research International
U01-DE20078 NIDCR NIH HHS United States
315014 National Natural Science Foundation of China International
1750102005011 Netherlands Organisation for Scientific Research International
CPT-1602, Estrategia para sostenibilidad 2016-2018 grupo GENMOL Universidad de Antioquia International
175.010.2005.011 Netherlands Organisation for Scientific Research International
050-060-810 Netherlands Genomics Initiative International
R01 DE016148 NIDCR NIH HHS United States
MC_PC_15018 Medical Research Council United Kingdom
740580 (VISAGE) Horizon 2020 - Research and Innovation Framework Programme International
XDC010400100 Strategic Priority Reserach Program Chinese Academy of Sciences International
Major Project 2017SHZDZX01 Shanghai Municipal Science and Technology Commission International
Strategic Priority Research Program (XDC010400100) Chinese Academy of Sciences International
1750102005011 Netherlands Organization of Scientific Research International
X01-HG007821 NIDCR NIH HHS United States
F/07 134/DF Levelhulm Trust International
QYZDJ-SSW-SYS009 Chinese Academy of Sciences International
MC_UU_00011/1 Medical Research Council United Kingdom
Fellowship (APP1103623) National Health and Medical Research Council International
BB/I021213/1 BBSRC International
91631307 National Natural Science Foundation of China International
740580 (VISAGE) European Union Horizon 2020 Research and Innovation Programme International
GENERAL NOTE
KEYWORDS
KEYWORD
European
GWAS
face
gene regulation
genetics
genome-wide association study
genomics
human
images
MESH HEADINGS
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's