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Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2

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Listed:
  • Myoung Keun Lee
  • John R Shaffer
  • Elizabeth J Leslie
  • Ekaterina Orlova
  • Jenna C Carlson
  • Eleanor Feingold
  • Mary L Marazita
  • Seth M Weinberg

Abstract

Several studies have now shown evidence of association between common genetic variants and quantitative facial traits in humans. The reported associations generally involve simple univariate measures and likely represent only a small fraction of the genetic loci influencing facial morphology. In this study, we applied factor analysis to a set of 276 facial linear distances derived from 3D facial surface images of 2187 unrelated individuals of European ancestry. We retained 23 facial factors, which we then tested for genetic associations using a genome-wide panel of 10,677,593 single nucleotide polymorphisms (SNPs). In total, we identified genome-wide significant (p

Suggested Citation

  • 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.
    • Handle: RePEc:plo:pone00:0176566
    DOI: 10.1371/journal.pone.0176566
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    References listed on IDEAS

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    1. Tohru Kitada & Shuichi Asakawa & Nobutaka Hattori & Hiroto Matsumine & Yasuhiro Yamamura & Shinsei Minoshima & Masayuki Yokochi & Yoshikuni Mizuno & Nobuyoshi Shimizu, 1998. "Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism," Nature, Nature, vol. 392(6676), pages 605-608, April.
    2. John Horn, 1965. "A rationale and test for the number of factors in factor analysis," Psychometrika, Springer;The Psychometric Society, vol. 30(2), pages 179-185, June.
    3. 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.
    4. Bryan N Howie & Peter Donnelly & Jonathan Marchini, 2009. "A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies," PLOS Genetics, Public Library of Science, vol. 5(6), pages 1-15, June.
    5. Mary E. Dickinson & Ann M. Flenniken & Xiao Ji & Lydia Teboul & Michael D. Wong & Jacqueline K. White & Terrence F. Meehan & Wolfgang J. Weninger & Henrik Westerberg & Hibret Adissu & Candice N. Baker, 2016. "High-throughput discovery of novel developmental phenotypes," Nature, Nature, vol. 537(7621), pages 508-514, September.
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    1. Ziyi Xiong & Xingjian Gao & Yan Chen & Zhanying Feng & Siyu Pan & Haojie Lu & Andre G. Uitterlinden & Tamar Nijsten & Arfan Ikram & Fernando Rivadeneira & Mohsen Ghanbari & Yong Wang & Manfred Kayser , 2022. "Combining genome-wide association studies highlight novel loci involved in human facial variation," Nature Communications, Nature, vol. 13(1), pages 1-20, December.

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