A genome-wide association study identifies five loci influencing facial morphology in Europeans

Research output: Contribution to journalJournal articleResearchpeer-review

  • Fan Liu
  • Fedde van der Lijn
  • Claudia Schurmann
  • Gu Zhu
  • M. Mallar Chakravarty
  • Pirro G. Hysi
  • Andreas Wollstein
  • Oscar Lao
  • M. Arfan Ikram
  • Aad van der Lugt
  • Fernando Rivadeneira
  • Andre G. Uitterlinden
  • Albert Hofman
  • Wiro J. Niessen
  • Georg Homuth
  • Greig de Zubicaray
  • Katie L. McMahon
  • Paul M. Thompson
  • Amro Daboul
  • Ralf Puls
  • Katrin Hegenscheid
  • Liisa Bevan
  • Zdenka Pausova
  • Sarah E. Medland
  • Grant W. Montgomery
  • Margaret J. Wright
  • Carol Wicking
  • Stefan Boehringer
  • Timothy D. Spector
  • Tomas Paus
  • Nicholas G. Martin
  • Reiner Biffar
  • Manfred Kayser

Monozygotic twins look more alike than dizygotic twins or other siblings, and siblings in turn look more alike than unrelated individuals, indicating that human facial morphology has a strong genetic component. We quantitatively assessed human facial shape phenotypes based on statistical shape analyses of facial landmarks obtained from three-dimensional magnetic resonance images of the head. These phenotypes turned out to be highly promising for studying the genetic basis of human facial variation in that they showed high heritability in our twin data. A subsequent genome-wide association study (GWAS) identified five candidate genes affecting facial shape in Europeans: PRDM16, PAX3, TP63, C5orf50, and COL17A1. In addition, our data suggest that genetic variants associated with NSCL/P also influence normal facial shape variation. Overall, this study provides novel and confirmatory links between common DNA variants and normal variation in human facial morphology. Our results also suggest that the high heritability of facial phenotypes seems to be explained by a large number of DNA variants with relatively small individual effect size, a phenomenon well known for other complex human traits, such as adult body height.

Original languageEnglish
Article numbere1002932
JournalP L o S Genetics
Volume8
Issue number9
Number of pages13
ISSN1553-7390
DOIs
Publication statusPublished - 2012
Externally publishedYes

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