ArticlePLoS genetics2012
A genome-wide association study identifies five loci influencing facial morphology in Europeans.
Article in PLoS genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 150 papers, 6 of them syntheses that pooled it.
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Who cites it
150 citing papers in PubMed, 6 syntheses or guidelines pooled it, 335 citations in OpenAlex.
- Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci.PLoS genetics · 2023Pooled it
- Advancement in Human Face Prediction Using DNA.Genes · 2023Pooled it
- Pooled it
- Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.Human molecular genetics · 2017Pooled it
- Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology.PLoS genetics · 2016Pooled it
- Pooled it
- Shared genetic basis and structure of syndromic and normal facial variation.American journal of human genetics · 2026Article
- Vertical Growth of Facial Soft Tissues: A Longitudinal Three-Dimensional Facial Growth Study.Orthodontics & craniofacial research · 2026Article
- Linked genetic loci and genotype-dependent temperature effects shape craniofacial morphology in medaka.G3 (Bethesda, Md.) · 2026Article
- Facial shape and self-perceived personality traits in young adults.Scientific reports · 2026Article
- Genome-Wide Association Study and Whole-Genome Resequencing Reveal Key lincRNA and Candidate Gene for Polled Phenotype in Yak.Animals : an open access journal from MDPI · 2026Article
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- Predicting Physical Appearance from Low Template: State of the Art and Future Perspectives.Genes · 2026Review
- Genetic architecture of craniofacial morphogenesis: roles ofFrontiers in cell and developmental biology · 2026Review
- Positional programs in early murine facial development and their role in human facial shape variability.Nature communications · 2025Article
- Association ofInternational journal of molecular sciences · 2025Article
- Forensic skeletal and molecular anthropology face to face: Combining expertise for identification of human remains.Annals of the New York Academy of Sciences · 2025Review
- Combined genome-wide association study of facial traits in Europeans increases explained variance and improves prediction.Nature communications · 2025Article
- Exploring the association between SNPs and facial morphology in a Spanish population.Scientific reports · 2025Article
- Optimized phenotyping of complex morphological traits: enhancing discovery of common and rare genetic variants.Briefings in bioinformatics · 2025Article
90 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
34 authors at 11 institutions in 6 countries.
Funding
Abstract
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.