Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology
Publication Date
August 25, 2016
Journal
PLOS Genetics
Authors
John R. Shaffer, Ekaterina Orlova, Myoung Keun Lee, Elizabeth J. Leslie, et al
Volume
12
Issue
8
Pages
e1006149
DOI
https://dx.plos.org/10.1371/journal.pgen.1006149
Publisher URL
http://journals.plos.org/plosgenetics/article?id=10.1371%2Fjournal.pgen.1006149
Web of Science
000382394500007
Scopus
84984924942
Mendeley
http://www.mendeley.com/research/genomewide-association-study-reveals-multiple-loci-influencing-normal-human-facial-morphology
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{"title"=>"Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology", "type"=>"journal", "authors"=>[{"first_name"=>"John R.", "last_name"=>"Shaffer", "scopus_author_id"=>"22954473100"}, {"first_name"=>"Ekaterina", "last_name"=>"Orlova", "scopus_author_id"=>"56080245000"}, {"first_name"=>"Myoung Keun", "last_name"=>"Lee", "scopus_author_id"=>"54418888700"}, {"first_name"=>"Elizabeth J.", "last_name"=>"Leslie", "scopus_author_id"=>"36150834000"}, {"first_name"=>"Zachary D.", "last_name"=>"Raffensperger", "scopus_author_id"=>"56481662500"}, {"first_name"=>"Carrie L.", "last_name"=>"Heike", "scopus_author_id"=>"13003347100"}, {"first_name"=>"Michael L.", "last_name"=>"Cunningham", "scopus_author_id"=>"55438446300"}, {"first_name"=>"Jacqueline T.", "last_name"=>"Hecht", "scopus_author_id"=>"7202912472"}, {"first_name"=>"Chung How", "last_name"=>"Kau", "scopus_author_id"=>"55030143800"}, {"first_name"=>"Nichole L.", "last_name"=>"Nidey", "scopus_author_id"=>"56122432700"}, {"first_name"=>"Lina M.", "last_name"=>"Moreno", "scopus_author_id"=>"7101696632"}, {"first_name"=>"George L.", "last_name"=>"Wehby", "scopus_author_id"=>"14047703300"}, {"first_name"=>"Jeffrey C.", "last_name"=>"Murray", "scopus_author_id"=>"7404760616"}, {"first_name"=>"Cecelia A.", "last_name"=>"Laurie", "scopus_author_id"=>"55234058000"}, {"first_name"=>"Cathy C.", "last_name"=>"Laurie", "scopus_author_id"=>"57195565212"}, {"first_name"=>"Joanne", "last_name"=>"Cole", "scopus_author_id"=>"55233572100"}, {"first_name"=>"Tracey", "last_name"=>"Ferrara", "scopus_author_id"=>"55054615100"}, {"first_name"=>"Stephanie", "last_name"=>"Santorico", "scopus_author_id"=>"36610792800"}, {"first_name"=>"Ophir", "last_name"=>"Klein", "scopus_author_id"=>"8917319700"}, {"first_name"=>"Washington", "last_name"=>"Mio", "scopus_author_id"=>"6603303827"}, {"first_name"=>"Eleanor", "last_name"=>"Feingold", "scopus_author_id"=>"7006820121"}, {"first_name"=>"Benedikt", "last_name"=>"Hallgrimsson", "scopus_author_id"=>"6602184859"}, {"first_name"=>"Richard A.", "last_name"=>"Spritz", "scopus_author_id"=>"7006548083"}, {"first_name"=>"Mary L.", "last_name"=>"Marazita", "scopus_author_id"=>"7006257137"}, {"first_name"=>"Seth M.", "last_name"=>"Weinberg", "scopus_author_id"=>"7101675947"}], "year"=>2016, "source"=>"PLoS Genetics", "identifiers"=>{"doi"=>"10.1371/journal.pgen.1006149", "sgr"=>"84984924942", "isbn"=>"2682012000", "pmid"=>"27560520", "issn"=>"15537404", "scopus"=>"2-s2.0-84984924942", "pui"=>"612002734"}, "id"=>"96b15785-bbf8-3149-a768-6588cf1ac3e1", "abstract"=>"Numerous lines of evidence point to a genetic basis for facial morphology in humans, yet little is known about how specific genetic variants relate to the phenotypic expression of many common facial features. We conducted genome-wide association meta-analyses of 20 quantitative facial measurements derived from the 3D surface images of 3118 healthy individuals of European ancestry belonging to two US cohorts. Analyses were performed on just under one million genotyped SNPs (Illumina OmniExpress+Exome v1.2 array) imputed to the 1000 Genomes reference panel (Phase 3). We observed genome-wide significant associations (p < 5 x 10-8) for cranial base width at 14q21.1 and 20q12, intercanthal width at 1p13.3 and Xq13.2, nasal width at 20p11.22, nasal ala length at 14q11.2, and upper facial depth at 11q22.1. Several genes in the associated regions are known to play roles in craniofacial development or in syndromes affecting the face: MAFB, PAX9, MIPOL1, ALX3, HDAC8, and PAX1. We also tested genotype-phenotype associations reported in two previous genome-wide studies and found evidence of replication for nasal ala length and SNPs in CACNA2D3 and PRDM16. 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