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

NCJ Number
Date Published
10 pages
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.
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)

Date Published: January 1, 2018