DSpace Repository

Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment

Show simple item record

dc.contributor.author Shaffer, John R.
dc.contributor.author Li, Jinxi
dc.contributor.author Lee, Myoung Keun
dc.contributor.author Roosenboom, Jasmien
dc.contributor.author Orlova, Ekaterina
dc.contributor.author Adhikari, Kaustabh
dc.contributor.author 23andMe Research Team
dc.contributor.author Gallo López-Aliaga, Carla Maria
dc.contributor.author Poletti, Giovanni
dc.contributor.author Schuler-Faccini, Lavinia
dc.contributor.author Bortolini, Maria-Cátira
dc.contributor.author Canizales-Quinteros, Samuel
dc.contributor.author Rothhammer, Francisco
dc.contributor.author Bedoya, Gabriel
dc.contributor.author González-José, Rolando
dc.contributor.author Pfeffer, Paige E.
dc.contributor.author Wollenschlaeger, Christopher A.
dc.contributor.author Hecht, Jacqueline T.
dc.contributor.author Wehby, George L.
dc.contributor.author Moreno, Lina M.
dc.contributor.author Ding, Anan
dc.contributor.author Jin, Li
dc.contributor.author Yang, Yajun
dc.contributor.author Carlson, Jenna C.
dc.contributor.author Leslie, Elizabeth J.
dc.contributor.author Feingold, Eleanor
dc.contributor.author Marazita, Mary L.
dc.contributor.author Hinds, David A.
dc.contributor.author Cox, Timothy C.
dc.contributor.author Wang, Sijia
dc.contributor.author Ruiz-Linares, Andrés
dc.contributor.author Weinberg, Seth M.
dc.date.accessioned 2019-01-25T15:28:06Z
dc.date.available 2019-01-25T15:28:06Z
dc.date.issued 2017
dc.identifier.uri https://hdl.handle.net/20.500.12866/4708
dc.description.abstract The genetic basis of earlobe attachment has been a matter of debate since the early 20th century, such that geneticists argue both for and against polygenic inheritance. Recent genetic studies have identified a few loci associated with the trait, but large-scale analyses are still lacking. Here, we performed a genome-wide association study of lobe attachment in a multiethnic sample of 74,660 individuals from four cohorts (three with the trait scored by an expert rater and one with the trait self-reported). Meta-analysis of the three expert-rater-scored cohorts revealed six associated loci harboring numerous candidate genes, including EDAR, SP5, MRPS22, ADGRG6 (GPR126), KIAA1217, and PAX9. The large self-reported 23andMe cohort recapitulated each of these six loci. Moreover, meta-analysis across all four cohorts revealed a total of 49 significant (p < 5 × 10-8) loci. Annotation and enrichment analyses of these 49 loci showed strong evidence of genes involved in ear development and syndromes with auricular phenotypes. RNA sequencing data from both human fetal ear and mouse second branchial arch tissue confirmed that genes located among associated loci showed evidence of expression. These results provide strong evidence for the polygenic nature of earlobe attachment and offer insights into the biological basis of normal and abnormal ear development. en_US
dc.language.iso eng
dc.publisher Elsevier
dc.relation.ispartofseries American Journal of Human Genetics
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Adolescent en_US
dc.subject Adult en_US
dc.subject Animals en_US
dc.subject attached earlobe en_US
dc.subject Branchial Region/anatomy & histology en_US
dc.subject Child en_US
dc.subject Child, Preschool en_US
dc.subject complex trait genetics en_US
dc.subject DNA-Binding Proteins/genetics en_US
dc.subject Ear/anatomy & histology en_US
dc.subject Edar Receptor/genetics en_US
dc.subject epistasis en_US
dc.subject genome-wide association study en_US
dc.subject Genome-Wide Association Study en_US
dc.subject Genotype en_US
dc.subject Humans en_US
dc.subject Mice en_US
dc.subject Middle Aged en_US
dc.subject Mitochondrial Proteins/genetics en_US
dc.subject Multifactorial Inheritance/genetics en_US
dc.subject multigenic en_US
dc.subject PAX9 Transcription Factor/genetics en_US
dc.subject pharyngeal arch en_US
dc.subject pinna en_US
dc.subject Proteins/genetics en_US
dc.subject Quantitative Trait Loci/genetics en_US
dc.subject Receptors, G-Protein-Coupled/genetics en_US
dc.subject Ribosomal Proteins/genetics en_US
dc.subject trans-ethnic en_US
dc.subject Transcription Factors/genetics en_US
dc.subject unattached earlobe en_US
dc.subject Young Adult en_US
dc.title Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1016/j.ajhg.2017.10.001
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.01.02
dc.relation.issn 1537-6605

Files in this item

Files Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record

info:eu-repo/semantics/restrictedAccess Except where otherwise noted, this item's license is described as info:eu-repo/semantics/restrictedAccess

Search DSpace


My Account