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Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology

Author

Listed:
  • John R Shaffer
  • Ekaterina Orlova
  • Myoung Keun Lee
  • Elizabeth J Leslie
  • Zachary D Raffensperger
  • Carrie L Heike
  • Michael L Cunningham
  • Jacqueline T Hecht
  • Chung How Kau
  • Nichole L Nidey
  • Lina M Moreno
  • George L Wehby
  • Jeffrey C Murray
  • Cecelia A Laurie
  • Cathy C Laurie
  • Joanne Cole
  • Tracey Ferrara
  • Stephanie Santorico
  • Ophir Klein
  • Washington Mio
  • Eleanor Feingold
  • Benedikt Hallgrimsson
  • Richard A Spritz
  • Mary L Marazita
  • Seth M Weinberg

Abstract

Numerous lines of evidence point to a genetic basis for facial morphology in humans, yet little is known about how specific genetic variants relate to the phenotypic expression of many common facial features. We conducted genome-wide association meta-analyses of 20 quantitative facial measurements derived from the 3D surface images of 3118 healthy individuals of European ancestry belonging to two US cohorts. Analyses were performed on just under one million genotyped SNPs (Illumina OmniExpress+Exome v1.2 array) imputed to the 1000 Genomes reference panel (Phase 3). We observed genome-wide significant associations (p

Suggested Citation

  • John R Shaffer & Ekaterina Orlova & Myoung Keun Lee & Elizabeth J Leslie & Zachary D Raffensperger & Carrie L Heike & Michael L Cunningham & Jacqueline T Hecht & Chung How Kau & Nichole L Nidey & Lina, 2016. "Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology," PLOS Genetics, Public Library of Science, vol. 12(8), pages 1-21, August.
    • Handle: RePEc:plo:pgen00:1006149
    DOI: 10.1371/journal.pgen.1006149
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    Cited by:

    1. Myoung Keun Lee & John R Shaffer & Elizabeth J Leslie & Ekaterina Orlova & Jenna C Carlson & Eleanor Feingold & Mary L Marazita & Seth M Weinberg, 2017. "Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2," PLOS ONE, Public Library of Science, vol. 12(4), pages 1-13, April.

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