@article{d34dee5c63cb4cfd9e31206e6213b067,
title = "Genome-wide mapping of global-to-local genetic effects on human facial shape",
abstract = "Genome-wide association scans of complex multipartite traits like the human face typically use preselected phenotypic measures. Here we report a data-driven approach to phenotyping facial shape at multiple levels of organization, allowing for an open-ended description of facial variation while preserving statistical power. In a sample of 2,329 persons of European ancestry, we identified 38 loci, 15 of which replicated in an independent European sample (n = 1,719). Four loci were completely new. For the others, additional support (n = 9) or pleiotropic effects (n = 2) 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.",
author = "Peter Claes and Jasmien Roosenboom and White, {Julie D.} and Tomek Swigut and Dzemila Sero and Jiarui Li and Lee, {Myoung Keun} and Arslan Zaidi and Mattern, {Brooke C.} and Corey Liebowitz and Laurel Pearson and Tom{\'a}s Gonz{\'a}lez and Leslie, {Elizabeth J.} and Carlson, {Jenna C.} and Ekaterina Orlova and Paul Suetens and Dirk Vandermeulen and Eleanor Feingold and Marazita, {Mary L.} and Shaffer, {John R.} and Joanna Wysocka and Shriver, {Mark D.} and Weinberg, {Seth M.}",
note = "Funding Information: This investigation was supported by KU Leuven, BOF funds GOA, CREA and C1. The collaborators at the University of Pittsburgh were supported by the National Institute for Dental and Craniofacial Research (see URLs) through the following grants: U01-DE020078, U01-DE020057, R01-DE016148, K99-DE02560 and 1-R01-DE027023. Funding for genotyping was provided by the National Human Genome Research Institute (see URLs): X01-HG007821 and X01-HG007485. Funding for initial genomic data cleaning by the University of Washington was provided by contract HHSN268201200008I from the National Institute for Dental and Craniofacial Research (see URLs) awarded to the Center for Inherited Disease Research (CIDR). The collaborators at Penn State University were supported in part by grants from the Center for Human Evolution and Development at Penn State, the Science Foundation of Ireland Walton Fellowship (04.W4/B643), the US National Institute of Justice (see URLs; 2008-DN-BX-K125) and the US Department of Defense (see URLs). The collaborators at the Stanford University School of Medicine were supported by the Howard Hughes Medical Institute, NIH U01 DE024430 and the March of Dimes Foundation 1-FY15-312 (J.W.). The funders had no role in study design, data collection and analysis, decision to publish or preparation of the manuscript.",
year = "2018",
month = mar,
day = "1",
doi = "10.1038/s41588-018-0057-4",
language = "English (US)",
volume = "50",
pages = "414--423",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "3",
}