| Literature DB >> 29459680 |
Peter Claes1,2,3, Jasmien Roosenboom4, Julie D White5, Tomek Swigut6, Dzemila Sero7,8, Jiarui Li7,8, Myoung Keun Lee4, Arslan Zaidi5, Brooke C Mattern5, Corey Liebowitz5, Laurel Pearson5, Tomás González5, Elizabeth J Leslie4, Jenna C Carlson9, Ekaterina Orlova10, Paul Suetens7,8, Dirk Vandermeulen7,8, Eleanor Feingold9,10, Mary L Marazita4,10, John R Shaffer10, Joanna Wysocka11,12, Mark D Shriver13, Seth M Weinberg14,15.
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.Entities:
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Year: 2018 PMID： 29459680 PMCID： PMC5937280 DOI： 10.1038/s41588-018-0057-4
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330