ArticlePloS one2018
Mapping genetic variants for cranial vault shape in humans.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 17 citations in OpenAlex.
- Genome-wide association study of inhaled corticosteroid response in admixed children with asthma.Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology · 2019Trial
- Cranial Morphological Patterns Based on Cranial Index and Petrous Ridge-Midline Angle in Koreans: Implications for Clinical and Forensic Applications.Diagnostics (Basel, Switzerland) · 2025Article
- Enhanced insights into the genetic architecture of 3D cranial vault shape using pleiotropy-informed GWAS.Communications biology · 2025Article
- Bioclimatic and masticatory influences on human cranial diversity verified by analysis of 3D morphometric homologous models.Scientific reports · 2024Article
- Unsupervised ensemble-based phenotyping enhances discoverability of genes related to left-ventricular morphology.Nature machine intelligence · 2024Article
- Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape.Nature communications · 2023Review
- Mef2a is a positive regulator ofAmerican journal of translational research · 2023Article
- Identification of 4 New Loci Associated With Primary Hyperparathyroidism (PHPT) and a Polygenic Risk Score for PHPT.The Journal of clinical endocrinology and metabolism · 2022Article
- Cranium growth, patterning and homeostasis.Development (Cambridge, England) · 2022Article
- Global patterns of the cranial form of modern human populations described by analysis of a 3D surface homologous model.Scientific reports · 2022Article
- Interrater and Intrarater Reliability of Cranial Anthropometric Measurements in Infants with Positional Plagiocephaly.Children (Basel, Switzerland) · 2020Article
- Functional Diversification of SRSF Protein Kinase to Control Ubiquitin-Dependent Neurodevelopmental Signaling.Developmental cell · 2020Article
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
Abstract
The shape of the cranial vault, a region comprising interlocking flat bones surrounding the cerebral cortex, varies considerably in humans. Strongly influenced by brain size and shape, cranial vault morphology has both clinical and evolutionary relevance. However, little is known about the genetic basis of normal vault shape in humans. We performed a genome-wide association study (GWAS) on three vault measures (maximum cranial width [MCW], maximum cranial length [MCL], and cephalic index [CI]) in a sample of 4419 healthy individuals of European ancestry. All measures were adjusted by sex, age, and body size, then tested for association with genetic variants spanning the genome. GWAS results for the two cohorts were combined via meta-analysis. Significant associations were observed at two loci: 15p11.2 (lead SNP rs2924767, p = 2.107 × 10-8) for MCW and 17q11.2 (lead SNP rs72841279, p = 5.29 × 10-9) for MCL. Additionally, 32 suggestive loci (p < 5x10-6) were observed. Several candidate genes were located in these loci, such as NLK, MEF2A, SOX9 and SOX11. Genome-wide linkage analysis of cranial vault shape in mice (N = 433) was performed to follow-up the associated candidate loci identified in the human GWAS. Two loci, 17q11.2 (c11.loc44 in mice) and 17q25.1 (c11.loc74 in mice), associated with cranial vault size in humans, were also linked with cranial vault size in mice (LOD scores: 3.37 and 3.79 respectively). These results provide further insight into genetic pathways and mechanisms underlying normal variation in human craniofacial morphology.
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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.