ArticlePLoS genetics2016
Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape.
Article in PLoS genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
56 citing papers in PubMed, 2 syntheses or guidelines pooled it, 105 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
- Pooled it
- Shared genetic basis and structure of syndromic and normal facial variation.American journal of human genetics · 2026Article
- Linked genetic loci and genotype-dependent temperature effects shape craniofacial morphology in medaka.G3 (Bethesda, Md.) · 2026Article
- 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
- 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
- Charting facial growth and development for Bantu Africans: Central tendencies, variational properties and sexual dimorphisms.Journal of anatomy · 2024Article
- A comprehensive evaluation of the phenotype-first and data-driven approaches in analyzing facial morphological traits.iScience · 2024Article
- Article
- Shaping faces: genetic and epigenetic control of craniofacial morphogenesis.Nature reviews. Genetics · 2023Review
- Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape.Communications biology · 2023Article
- Effect of genetic variants inForensic sciences research · 2023Article
- Genetic influences on dentognathic morphology in the Jirel population of Nepal.Anatomical record (Hoboken, N.J. : 2007) · 2022Article
- Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology.Annual review of genomics and human genetics · 2022Review
- Genetic variants underlying differences in facial morphology in East Asian and European populations.Nature genetics · 2022Article
Corrections and comments
- Commented on by
Authors and funding
19 authors at 6 institutions in 4 countries.
Funding
Abstract
The human face is a complex assemblage of highly variable yet clearly heritable anatomic structures that together make each of us unique, distinguishable, and recognizable. Relatively little is known about the genetic underpinnings of normal human facial variation. To address this, we carried out a large genomewide association study and two independent replication studies of Bantu African children and adolescents from Mwanza, Tanzania, a region that is both genetically and environmentally relatively homogeneous. We tested for genetic association of facial shape and size phenotypes derived from 3D imaging and automated landmarking of standard facial morphometric points. SNPs within genes SCHIP1 and PDE8A were associated with measures of facial size in both the GWAS and replication cohorts and passed a stringent genomewide significance threshold adjusted for multiple testing of 34 correlated traits. For both SCHIP1 and PDE8A, we demonstrated clear expression in the developing mouse face by both whole-mount in situ hybridization and RNA-seq, supporting their involvement in facial morphogenesis. Ten additional loci demonstrated suggestive association with various measures of facial shape. Our findings, which differ from those in previous studies of European-derived whites, augment understanding of the genetic basis of normal facial development, and provide insights relevant to both human disease and forensics.
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.