Insights into the genetic architecture of the human face

Julie D. White, Karlijne Indencleef, Sahin Naqvi, Ryan J. Eller, Hanne Hoskens, Jasmien Roosenboom, Myoung Keun Lee, Jiarui Li, Jaaved Mohammed, Stephen Richmond, Ellen E. Quillen, Heather L. Norton, Eleanor Feingold, Tomek Swigut, Mary L. Marazita, Hilde Peeters, Greet Hens, John R. Shaffer, Joanna Wysocka, Susan WalshSeth M. Weinberg, Mark D. Shriver, Peter Claes

Research output: Contribution to journalArticlepeer-review

79 Scopus citations


The human face is complex and multipartite, and characterization of its genetic architecture remains challenging. Using a multivariate genome-wide association study meta-analysis of 8,246 European individuals, we identified 203 genome-wide-significant signals (120 also study-wide significant) associated with normal-range facial variation. Follow-up analyses indicate that the regions surrounding these signals are enriched for enhancer activity in cranial neural crest cells and craniofacial tissues, several regions harbor multiple signals with associations to different facial phenotypes, and there is evidence for potential coordinated actions of variants. In summary, our analyses provide insights into the understanding of how complex morphological traits are shaped by both individual and coordinated genetic actions.

Original languageEnglish (US)
Pages (from-to)45-53
Number of pages9
JournalNature Genetics
Issue number1
StatePublished - Jan 2021

All Science Journal Classification (ASJC) codes

  • Genetics


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