@article{d3e97666fd3f4830b4343fa319fbb11c,
title = "Insights into the genetic architecture of the human face",
abstract = "The human face is complex and multipartite, and characterization of its genetic architecture remains challenging. Using a multivariate genome-wide association study meta-analysis of 8,246 European individuals, we identified 203 genome-wide-significant signals (120 also study-wide significant) associated with normal-range facial variation. Follow-up analyses indicate that the regions surrounding these signals are enriched for enhancer activity in cranial neural crest cells and craniofacial tissues, several regions harbor multiple signals with associations to different facial phenotypes, and there is evidence for potential coordinated actions of variants. In summary, our analyses provide insights into the understanding of how complex morphological traits are shaped by both individual and coordinated genetic actions.",
author = "White, {Julie D.} and Karlijne Indencleef and Sahin Naqvi and Eller, {Ryan J.} and Hanne Hoskens and Jasmien Roosenboom and Lee, {Myoung Keun} and Jiarui Li and Jaaved Mohammed and Stephen Richmond and Quillen, {Ellen E.} and Norton, {Heather L.} and Eleanor Feingold and Tomek Swigut and Marazita, {Mary L.} and Hilde Peeters and Greet Hens and Shaffer, {John R.} and Joanna Wysocka and Susan Walsh and Weinberg, {Seth M.} and Shriver, {Mark D.} and Peter Claes",
note = "Funding Information: We are extremely grateful to all the individuals and families who took part in this study, the midwives for their help in recruiting them and the whole ALSPAC team, which includes interviewers, computer and laboratory technicians, clerical workers, research scientists, volunteers, managers, receptionists and nurses. We are also very grateful to all of the US participants for generously donating their time to our research, and to present and former laboratory members who worked tirelessly to make these analyses possible. Pittsburgh personnel, data collection and analyses were supported by the National Institute of Dental and Craniofacial Research (U01-DE020078, program director/principal investigators (PD/PIs): M.L.M./S.M.W.; R01-DE016148, PD/PIs: M.L.M./S.M.W.; and R01-DE027023, PD/PIs: S.M.W./J.R.S.). Funding for genotyping by the National Human Genome Research Institute (X01-HG007821 and X01-HG007485, PD/PI: M.L.M.) and funding for initial genomic data cleaning by the University of Washington provided by contract HHSN268201200008I from the National Institute for Dental and Craniofacial Research awarded to the Center for Inherited Disease Research (https://www.cidr.jhmi.edu/). Penn State personnel, data collection and analyses were supported by Procter & Gamble, Company (UCRI-2015-1117-HN-532, PD/PIs: H.L.N.), the Center for Human Evolution and Development at Penn State, the Science Foundation of Ireland Walton Fellowship (04.W4/B643, PD/PI: M.D.S.), the US National Institute of Justice (2008-DN-BX-K125, PD/PI: M.D.S.; and 2018-DU-BX-0219, PD/PIs: S.W.) and by the US Department of Defense. IUPUI personnel, data collection and analyses were supported by the National Institute of Justice (2015-R2-CX-0023, 2014-DN-BX-K031 and 2018-DU-BX-0219, PD/PI: S.W.). University of Cincinnati personnel and data collection were supported by Procter & Gamble, Company (UCRI-2015-1117-HN-532, PD/PI: H.L.N.). The UK Medical Research Council and Wellcome (grant no. 102215/2/13/2) and the University of Bristol provide core support for ALSPAC. The publication is the work of the authors and K.I. and P.C. will serve as guarantors for the contents of this paper. A comprehensive list of grants funding is available on the ALSPAC website (http://www.bristol.ac.uk/alspac/external/documents/grant-acknowledgements. pdf). ALSPAC GWAS data was generated by Sample Logistics and Genotyping Facilities at Wellcome Sanger Institute and LabCorp (Laboratory Corporation of America) using support from 23andMe. The KU Leuven research team and analyses were supported by the National Institute of Dental and Craniofacial Research (R01-DE027023, PD/PIs: S.M.W./J.R.S.), The Research Fund KU Leuven (BOF-C1, C14/15/081 and C14/20/081, PD/PI: P.C.), The Research Program of the Research Foundation—Flanders (FWO, G078518N, PD/PI: P.C.) and a Senior Clinical Investigator Fellowship of The Research Foundation—Flanders (G078714N, PD/PI: G.H.). Stanford University personnel and analyses were supported by the National Institute of Dental and Craniofacial Research (R01-DE027023, PD/PIs: S.M.W./J.R.S.; and U01-DE024430, PD/PIs: J.W./L. Selleri), the Howard Hughes Medical Institute and the March of Dimes Foundation (1-FY15-312, PD/PI: J.W.). Publisher Copyright: {\textcopyright} 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.",
year = "2021",
month = jan,
doi = "10.1038/s41588-020-00741-7",
language = "English (US)",
volume = "53",
pages = "45--53",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "1",
}