rs1034266 - PCCA

Magnitude 2.0 · 1 study on file

Reported associations

• Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape - Unknown journal (n.d.) · Unknown authors · PubMed 37973980

  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 bon

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