SynthesisPLoS genetics2016
Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology.
Synthesis in PLoS genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
94 citing papers in PubMed, 3 syntheses or guidelines pooled it, 178 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
- Atlas of cell types and regulatory elements underlying human facial diversity.Nature genetics · 2026Article
- Genetic and epigenetic contributors to cleft laterality: evidence from monozygotic mirror twins and replication cohorts.Human molecular genetics · 2026Article
- Shared genetic basis and structure of syndromic and normal facial variation.American journal of human genetics · 2026Article
- Transverse 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
- Genetic and Epigenetic Contributors to Cleft Laterality: Evidence from Monozygotic Mirror Twins and Replication Cohorts.medRxiv : the preprint server for health sciences · 2026Article
- Article
- PRDM paralogs are required for Meckel's cartilage formation during mandibular bone development.Developmental biology · 2026Article
- The craniofacial shape of modern humans embodies genomic signatures of evolution, diversity, and clinical conditions.bioRxiv : the preprint server for biology · 2026Article
- Genetic architecture of craniofacial morphogenesis: roles ofFrontiers in cell and developmental biology · 2026Review
- Expanding the Genetic Landscape of Craniofacial Anomalies Through Transcriptome-Wide Association Studies.Research square · 2025Article
- Comparative study of fetal facial shape between Japanese and North American populations using micro-CT.Scientific reports · 2025Article
- Expanding the Genetic Landscape of Craniofacial Anomalies Through Transcriptome-Wide Association Studies.Research square · 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
- Exploring the association between SNPs and facial morphology in a Spanish population.Scientific reports · 2025Article
- Enhanced insights into the genetic architecture of 3D cranial vault shape using pleiotropy-informed GWAS.Communications biology · 2025Article
- Optimized phenotyping of complex morphological traits: enhancing discovery of common and rare genetic variants.Briefings in bioinformatics · 2025Article
34 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
25 authors at 10 institutions in 2 countries.
Funding
Abstract
Numerous lines of evidence point to a genetic basis for facial morphology in humans, yet little is known about how specific genetic variants relate to the phenotypic expression of many common facial features. We conducted genome-wide association meta-analyses of 20 quantitative facial measurements derived from the 3D surface images of 3118 healthy individuals of European ancestry belonging to two US cohorts. Analyses were performed on just under one million genotyped SNPs (Illumina OmniExpress+Exome v1.2 array) imputed to the 1000 Genomes reference panel (Phase 3). We observed genome-wide significant associations (p < 5 x 10-8) for cranial base width at 14q21.1 and 20q12, intercanthal width at 1p13.3 and Xq13.2, nasal width at 20p11.22, nasal ala length at 14q11.2, and upper facial depth at 11q22.1. Several genes in the associated regions are known to play roles in craniofacial development or in syndromes affecting the face: MAFB, PAX9, MIPOL1, ALX3, HDAC8, and PAX1. We also tested genotype-phenotype associations reported in two previous genome-wide studies and found evidence of replication for nasal ala length and SNPs in CACNA2D3 and PRDM16. These results provide further evidence that common variants in regions harboring genes of known craniofacial function contribute to normal variation in human facial features. Improved understanding of the genes associated with facial morphology in healthy individuals can provide insights into the pathways and mechanisms controlling normal and abnormal facial morphogenesis.
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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.