| Title: | Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape |
| Journal: | Nature Communications |
| Published: | 16 Nov 2023 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/37973980/ |
| DOI: | https://doi.org/10.1038/s41467-023-43237-8 |
| URL: | https://www.nature.com/articles/s41467-023-43237-8.pdf |
| Citations: | 5 (5 in last 2 years) as of 8 Aug 2024 |
Publication 8320
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Abstract
The cranial vault in humans is highly variable, clinically relevant, and heritable, yet its genetic architecture remains poorly understood. Here, we conduct a joint multi-ancestry and admixed multivariate genome-wide association study on 3D cranial vault shape extracted from magnetic resonance images of 6772 children from the ABCD study cohort yielding 30 genome-wide significant loci. Follow-up analyses indicate that these loci overlap with genomic risk loci for sagittal craniosynostosis, show elevated activity cranial neural crest cells, are enriched for processes related to skeletal development, and are shared with the face and brain. We present supporting evidence of regional localization for several of the identified genes based on expression patterns in the cranial vault bones of E15.5 mice. Overall, our study provides a comprehensive overview of the genetics underlying normal-range cranial vault shape and its relevance for understanding modern human craniofacial diversity and the etiology of congenital malformations.</p>
20 Authors
- Seppe Goovaerts
- Hanne Hoskens
- Ryan J. Eller
- Noah Herrick
- Anthony M. Musolf
- Cristina M. Justice
- Meng Yuan
- Sahin Naqvi
- Myoung Keun Lee
- Dirk Vandermeulen
- Heather L. Szabo-Rogers
- Paul A. Romitti
- Simeon A. Boyadjiev
- Mary L. Marazita
- John R. Shaffer
- Mark D. Shriver
- Joanna Wysocka
- Susan Walsh
- Seth M. Weinberg
- Peter Claes
1 Application
| Application ID | Title |
|---|---|
| 43193 | Understanding the genetic architecture of human brain shape from MRI using global-to-local shape segmentations |
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