ArticleAmerican journal of human genetics2012
Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 112 papers, 5 of them syntheses that pooled it.
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Who cites it
112 citing papers in PubMed, 5 syntheses or guidelines pooled it, 227 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
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- 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
- Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.Human molecular genetics · 2013Pooled it
- Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence.Human genetics · 2015Trial
- Exploring the association between genetic polymorphisms in FGFR2 and children's facial morphology.Head & face medicine · 2026Article
- Linked genetic loci and genotype-dependent temperature effects shape craniofacial morphology in medaka.G3 (Bethesda, Md.) · 2026Article
- Dentofacial Malocclusion and Salivary Biomarkers in Asthmatic Patients: A Scoping Review.International dental journal · 2026Article
- Principal component analysis of 3-dimensional facial soft-tissue morphology in three adult populations.Scientific reports · 2026Article
- 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
- De Novo Reconstruction of 3D Human Facial Images from DNA Sequence.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- 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
- Investigating possible shared single nucleotide polymorphisms in isolated oral cleft and non-cleft facial morphology.Frontiers in dental medicine · 2025Article
- Article
52 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
Abstract
Craniofacial morphology is highly heritable, but little is known about which genetic variants influence normal facial variation in the general population. We aimed to identify genetic variants associated with normal facial variation in a population-based cohort of 15-year-olds from the Avon Longitudinal Study of Parents and Children. 3D high-resolution images were obtained with two laser scanners, these were merged and aligned, and 22 landmarks were identified and their x, y, and z coordinates used to generate 54 3D distances reflecting facial features. 14 principal components (PCs) were also generated from the landmark locations. We carried out genome-wide association analyses of these distances and PCs in 2,185 adolescents and attempted to replicate any significant associations in a further 1,622 participants. In the discovery analysis no associations were observed with the PCs, but we identified four associations with the distances, and one of these, the association between rs7559271 in PAX3 and the nasion to midendocanthion distance (n-men), was replicated (p = 4 × 10(-7)). In a combined analysis, each G allele of rs7559271 was associated with an increase in n-men distance of 0.39 mm (p = 4 × 10(-16)), explaining 1.3% of the variance. Independent associations were observed in both the z (nasion prominence) and y (nasion height) dimensions (p = 9 × 10(-9) and p = 9 × 10(-10), respectively), suggesting that the locus primarily influences growth in the yz plane. Rare variants in PAX3 are known to cause Waardenburg syndrome, which involves deafness, pigmentary abnormalities, and facial characteristics including a broad nasal bridge. Our findings show that common variants within this gene also influence normal craniofacial development.
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