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Mapping genetic variants for cranial vault shape in humans

Author

Listed:
  • Jasmien Roosenboom
  • Myoung Keun Lee
  • Jacqueline T Hecht
  • Carrie L Heike
  • George L Wehby
  • Kaare Christensen
  • Eleanor Feingold
  • Mary L Marazita
  • A Murat Maga
  • John R Shaffer
  • Seth M Weinberg

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

Suggested Citation

  • Jasmien Roosenboom & Myoung Keun Lee & Jacqueline T Hecht & Carrie L Heike & George L Wehby & Kaare Christensen & Eleanor Feingold & Mary L Marazita & A Murat Maga & John R Shaffer & Seth M Weinberg, 2018. "Mapping genetic variants for cranial vault shape in humans," PLOS ONE, Public Library of Science, vol. 13(4), pages 1-14, April.
    • Handle: RePEc:plo:pone00:0196148
    DOI: 10.1371/journal.pone.0196148
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    1. 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 & Pau, 2023. "Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape," Nature Communications, Nature, vol. 14(1), pages 1-21, December.

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