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

PLoS Genet. 2012 Sep;8(9):e1002932. doi: 10.1371/journal.pgen.1002932. Epub 2012 Sep 13.

Abstract

Inter-individual variation in facial shape is one of the most noticeable phenotypes in humans, and it is clearly under genetic regulation; however, almost nothing is known about the genetic basis of normal human facial morphology. We therefore conducted a genome-wide association study for facial shape phenotypes in multiple discovery and replication cohorts, considering almost ten thousand individuals of European descent from several countries. Phenotyping of facial shape features was based on landmark data obtained from three-dimensional head magnetic resonance images (MRIs) and two-dimensional portrait images. We identified five independent genetic loci associated with different facial phenotypes, suggesting the involvement of five candidate genes--PRDM16, PAX3, TP63, C5orf50, and COL17A1--in the determination of the human face. Three of them have been implicated previously in vertebrate craniofacial development and disease, and the remaining two genes potentially represent novel players in the molecular networks governing facial development. Our finding at PAX3 influencing the position of the nasion replicates a recent GWAS of facial features. In addition to the reported GWA findings, we established links between common DNA variants previously associated with NSCL/P at 2p21, 8q24, 13q31, and 17q22 and normal facial-shape variations based on a candidate gene approach. Overall our study implies that DNA variants in genes essential for craniofacial development contribute with relatively small effect size to the spectrum of normal variation in human facial morphology. This observation has important consequences for future studies aiming to identify more genes involved in the human facial morphology, as well as for potential applications of DNA prediction of facial shape such as in future forensic applications.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autoantigens / genetics*
  • Body Patterning / genetics
  • Collagen Type XVII
  • DNA-Binding Proteins / genetics*
  • Face / anatomy & histology*
  • Genome-Wide Association Study
  • Humans
  • Imaging, Three-Dimensional
  • Magnetic Resonance Imaging
  • Non-Fibrillar Collagens / genetics*
  • PAX3 Transcription Factor
  • Paired Box Transcription Factors / genetics*
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Transcription Factors / genetics*
  • Tumor Suppressor Proteins / genetics*
  • White People / genetics

Substances

  • Autoantigens
  • DNA-Binding Proteins
  • Non-Fibrillar Collagens
  • PAX3 Transcription Factor
  • PAX3 protein, human
  • PRDM16 protein, human
  • Paired Box Transcription Factors
  • TP63 protein, human
  • Transcription Factors
  • Tumor Suppressor Proteins