Genome-wide mapping of global-to-local genetic effects on human facial shape

Peter Claes, Jasmien Roosenboom, Julie D. White, Tomek Swigut, Dzemila Sero, Jiarui Li, Myoung Keun Lee, Arslan Zaidi, Brooke C. Mattern, Corey Liebowitz, Laurel Pearson, Tomás González, Elizabeth J. Leslie, Jenna C. Carlson, Ekaterina Orlova, Paul Suetens, Dirk Vandermeulen, Eleanor Feingold, Mary L. Marazita, John R. ShafferJoanna Wysocka, Mark D. Shriver, Seth M. Weinberg

Research output: Contribution to journalArticlepeer-review

55 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)414-423
Number of pages10
JournalNature Genetics
Volume50
Issue number3
DOIs
StatePublished - Mar 1 2018

All Science Journal Classification (ASJC) codes

  • Genetics

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