Genome-wide Mapping of Global-to-Local Genetic Effects on Human Facial Shape

• NCJ Number: 253164
• Journal: Nature Genetics Volume: 50 Issue: 3 Dated: 2018 Pages: 414-423
• Date Published: 2018
• Author(s): Peter. Claes; Jasmien Roosenboom; Julie D. White; Tomek Swigut; Dzemila Sero; Jiarui Li; Myoung Keun Lee; Arsian Zaidi; Brooke C. Mattern; Corey Liebowitz; Laurel Pearson; Tomas Gonzalez; Elizabeth J. Leslie; Jenna C. Carlson; Ekaterina Orlova; Paul Suetens; Dirk Vandermeulen; Eleanor Feingold; Mary L. Marazita; John R. Shaffer; Joanna Wysocka; Mark D. Shriver; Seth M. Weinberg
• Length: 10 pages
• Grant Number(s): 2008-DN-BX-K125
• Agencies: NIJ-Sponsored
• Publication Type: Research (Applied/Empirical)

Annotation

Since genome-wide association scans of complex multipartite traits, such as the human face, typically use preselected phenotypic measures, this article reports on a data-driven approach to phenotyping facial shape at multiple levels of organization, enabling an open-ended description of facial variation while preserving statistical power.

Abstract

In a sample of 2,329 persons of European ancestry, researchers identified 38 loci, 15 of which replicated in an independent European sample. Four loci were completely new. For the others, additional support or pleiotropic effects were found in the literature, but the results reported here were further refined. All 15 replicated loci highlighted distinctive patterns of global-to-local genetic effects on facial shape and showed enrichment for active chromatin elements in human cranial neural crest cells, suggesting an early developmental origin of the facial variation captured. These results have implications for studies of facial genetics and other complex morphological traits. (publisher abstract modified)