UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment

Shaffer, JR; Li, J; Lee, MK; Roosenboom, J; Orlova, E; Adhikari, K; Gallo, C; ... Weinberg, SM; + view all (2017) Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment. American Journal of Human Genetics , 101 (6) pp. 913-924. 10.1016/j.ajhg.2017.10.001. Green open access

[thumbnail of Published article with supplementary information]
Preview
Text (Published article with supplementary information)
Shaffer_Multiethnic_GWAS.pdf - Published Version

Download (4MB) | Preview

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.

Type: Article
Title: Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.ajhg.2017.10.001
Publisher version: https://doi.org/10.1016/j.ajhg.2017.10.001
Language: English
Additional information: Copyright © 2017 The Authors. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Keywords: pinna, genome-wide association study, trans-ethnic, pharyngeal arch, complex trait genetics, multigenic, attached earlobe, unattached earlobe, epistasis
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Cell and Developmental Biology
URI: https://discovery.ucl.ac.uk/id/eprint/10041330
Downloads since deposit
145Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item