Journal
PLOS GENETICS
Volume 8, Issue 9, Pages -Publisher
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pgen.1002932
Keywords
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Categories
Funding
- Netherlands Forensic Institute
- Netherlands Genomics Initiative/Netherlands Organization for Scientific Research (NWO) within the framework of the Forensic Genomics Consortium Netherlands
- Erasmus Medical Center
- Erasmus University, Rotterdam
- Netherlands Organization for the Health Research and Development (ZonMw)
- Research Institute for Diseases in the Elderly (RIDE)
- Ministry of Education, Culture, and Science
- Ministry for Health, Welfare, and Sports
- European Commission (DG XII)
- Municipality of Rotterdam
- Netherlands Organization of Scientific Research NWO Investments [175.010.2005.011, 911-03-012]
- Research Institute for Diseases in the Elderly [014-93-015]
- Netherlands Genomics Initiative (NGI)/Netherlands Organization for Scientific Research (NWO) project [050-060-810]
- National Institutes of Health, United States [HD50735]
- National Health and Medical Research Council (NHMRC), Australia [496682]
- ARC Linkage Project: Molecular photofitting for criminal investigations [LP110100121]
- Federal Ministry of Education and Research [01ZZ9603, 01ZZ0103, 01ZZ0403, 03ZIK012]
- Ministry of Cultural Affairs
- Social Ministry of the Federal State of Mecklenburg, West Pomerania
- Siemens Healthcare, Erlangen, Germany
- Federal State of Mecklenburg, West Pomerania
- Deutsche Forschungsgemeinschaft [GRK-840]
- Canadian Institutes of Health Research
- Heart and Stroke Foundation of Quebec
- Canadian Foundation for Innovation
- Canada Foundation for Innovation under the auspices of Compute Canada, the Government of Ontario
- Ontario Research Fund-Research Excellence
- University of Toronto
- Wellcome Trust
- European Community's Seventh Framework Program [HEALTH-F2-2008-201865-GEFOS]
- ENGAGE project [HEALTH-F4-2007-201413]
- FP-5 GenomEUtwin Project [QLG2-CT-2002-01254]
- Department of Health via the National Institute for Health Research (NIHR) comprehensive Biomedical Research Centre award to Guy's and St. Thomas' NHS Foundation Trust
- King's College London
- Biotechnology and Biological Sciences Research Council (BBSRC) project [G20234]
- U.S. National Institutes of Health (NIH)/National Eye Institute (NEI) [1RO1EY018246]
- NIH Center for Inherited Disease Research
- National Institute for Health Research (NIHR) comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service Foundation Trust
- Identitas Inc.
- Australian Research Council [LP110100121] Funding Source: Australian Research Council
Ask authors/readers for more resources
Inter-individual variation in facial shape is one of the most noticeable phenotypes in humans, and it is clearly under genetic regulation; however, almost nothing is known about the genetic basis of normal human facial morphology. We therefore conducted a genome-wide association study for facial shape phenotypes in multiple discovery and replication cohorts, considering almost ten thousand individuals of European descent from several countries. Phenotyping of facial shape features was based on landmark data obtained from three-dimensional head magnetic resonance images (MRIs) and two-dimensional portrait images. We identified five independent genetic loci associated with different facial phenotypes, suggesting the involvement of five candidate genes-PRDM16, PAX3, TP63, C5orf50, and COL17A1-in the determination of the human face. Three of them have been implicated previously in vertebrate craniofacial development and disease, and the remaining two genes potentially represent novel players in the molecular networks governing facial development. Our finding at PAX3 influencing the position of the nasion replicates a recent GWAS of facial features. In addition to the reported GWA findings, we established links between common DNA variants previously associated with NSCL/P at 2p21, 8q24, 13q31, and 17q22 and normal facial-shape variations based on a candidate gene approach. Overall our study implies that DNA variants in genes essential for craniofacial development contribute with relatively small effect size to the spectrum of normal variation in human facial morphology. This observation has important consequences for future studies aiming to identify more genes involved in the human facial morphology, as well as for potential applications of DNA prediction of facial shape such as in future forensic applications.
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