ArticleProceedings of the National Academy of Sciences of the United States of America2018
Genetics of the human face: Identification of large-effect single gene variants.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 2 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.
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Who cites it
41 citing papers in PubMed, 2 syntheses or guidelines pooled it, 78 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
- Positional programs in early murine facial development and their role in human facial shape variability.Nature communications · 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
- 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
- Recording dynamic facial micro-expressions with a multi-focus camera array.Biomedical optics express · 2025Article
- Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population.Nature communications · 2024Article
- Mapping genes for human face shape: Exploration of univariate phenotyping strategies.PLoS computational biology · 2024Article
- Article
- A comprehensive evaluation of the phenotype-first and data-driven approaches in analyzing facial morphological traits.iScience · 2024Article
- Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population.bioRxiv : the preprint server for biology · 2023Article
- The face as folded object: Race and the problems with 'progress' in forensic DNA phenotyping.Social studies of science · 2023Article
- Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution.Nature reviews. Genetics · 2023Review
- Effect of genetic variants inForensic sciences research · 2023Article
- The heritability of vocal tract structures estimated from structural MRI in a large cohort of Dutch twins.Human genetics · 2022Article
- Influence of the nutritional status on facial morphology in young Japanese women.Scientific reports · 2022Article
- Towards a global view of multiple sclerosis genetics.Nature reviews. Neurology · 2022Review
- Genetic influences on dentognathic morphology in the Jirel population of Nepal.Anatomical record (Hoboken, N.J. : 2007) · 2022Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
Abstract
To discover specific variants with relatively large effects on the human face, we have devised an approach to identifying facial features with high heritability. This is based on using twin data to estimate the additive genetic value of each point on a face, as provided by a 3D camera system. In addition, we have used the ethnic difference between East Asian and European faces as a further source of face genetic variation. We use principal components (PCs) analysis to provide a fine definition of the surface features of human faces around the eyes and of the profile, and chose upper and lower 10% extremes of the most heritable PCs for looking for genetic associations. Using this strategy for the analysis of 3D images of 1,832 unique volunteers from the well-characterized People of the British Isles study and 1,567 unique twin images from the TwinsUK cohort, together with genetic data for 500,000 SNPs, we have identified three specific genetic variants with notable effects on facial profiles and eyes.
Indexed as
Identifiers
What OpenQuestion holds
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.