Insights into the genetic architecture of the human face

• NCJ Number: 304139
• Journal: Nature Genetics Volume: 53 Dated: 2021 Pages: 45-53
• Author(s): 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 Walsh; Seth M. Weinberg; Mark D. Shriver; Peter Claes
• Date Published: 2020
• Length: 9 pages
• Grant Number(s): 2015-R2-CX-0023; 2014-DN-BX-K031; 2018-DU-BX-0219; 2008-DN-BX-K125
• Agencies: NIJ-Sponsored
• Publication Type: Research (Applied/Empirical)
• Award: Improving the prediction of human quantitative pigmentation traits such as eye, hair and skin color using a worldwide representation panel of US and European individuals; Identifying and Communicating Genetic Determinants of Facial Features:Practical Considerations in Forensic Molecular Photofitting; An Investigation into the genetic basis of human facial morphology and its prediction from DNA, using a globally distributed panel of individuals from the US and Europe.; Ensuring standards and enhancing the field of predictive biometrics using a globally-diverse genotype-phenotype database

Annotation

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.

 

Abstract

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)