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Insights into the genetic architecture of the human face

NCJ Number
Nature Genetics Volume: 53 Dated: 2021 Pages: 45-53
Julie D. White; et al
Date Published
9 pages

Since the human face is complex and multipartite, and characterization of its genetic architecture remains challenging, the current study used a multivariate genome-wide association study meta-analysis of 8,246 European individuals.



The study identified 203 genome-wide-significant signals (120 also study-wide significant) associated with normal-range facial variation. Follow-up analyses indicated that the regions surrounding these signals were enriched for enhancer activity in cranial neural crest cells and craniofacial tissues, with several regions harboring multiple signals with associations to different facial phenotypes. There was also evidence for potential coordinated actions of variants. In summary, the analyses provide insights on how complex morphological traits are shaped by both individual and coordinated genetic actions. (publisher abstract modified)