Insights into the genetic architecture of the human face

White, Julie D., Indencleef, Karlijne, Naqvi, Sahin, Eller, Ryan J., Hoskens, Hanne, Roosenboom, Jasmien, Lee, Myoung Keun, Li, Jiarui, Mohammed, Jaaved, Richmond, Stephen ORCID: https://orcid.org/0000-0001-5449-5318, Quillen, Ellen E., Norton, Heather L., Feingold, Eleanor, Swigut, Tomek, Marazita, Mary L., Peeters, Hilde, Hens, Greet, Shaffer, John R., Wysocka, Joanna, Walsh, Susan, Weinberg, Seth M., Shriver, Mark D. and Claes, Peter 2021. Insights into the genetic architecture of the human face. Nature Genetics 53 , pp. 45-53. 10.1038/s41588-020-00741-7

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Abstract

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Dentistry
Publisher:	Nature Research
ISSN:	1061-4036
Date of Acceptance:	23 October 2020
Last Modified:	09 Nov 2022 11:23
URI:	https://orca.cardiff.ac.uk/id/eprint/142964

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