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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.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Claes P,Roosenboom J,White JD,Swigut T,Sero D,Li J,Lee MK,Zaidi A,Mattern BC,Liebowitz C,Pearson L,González T,Leslie EJ,Carlson JC,Orlova E,Suetens P,Vandermeulen D,Feingold E,Marazita ML,Shaffer JR,Wysocka J,Sh

doi

10.1038/s41588-018-0057-4

subject

Has Abstract

pub_date

2018-03-01 00:00:00

pages

414-423

issue

3

eissn

1061-4036

issn

1546-1718

pii

10.1038/s41588-018-0057-4

journal_volume

50

pub_type

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