Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment

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....

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Detalles Bibliográficos
Autores: Shaffer, John, Li, Jinxi, Lee, Myoung Keun, Gallo, Carla, Poletti, Giovanni, Schuler Faccini, Lavinia, Bortolini, María Cátira, Canizales Quinteros, Samuel, Rothhammer, Francisco, Bedoya Berrío, Gabriel de Jesús, González José, Rolando, Pfeffer, Paige, Wollenschlaeger, Christopher, Hecht, Jacqueline, Wehby, George, Moreno Uribe, Lina María, Ding, Anan, Jin, Li, Yang, Yajun, Carlson, Jenna, Leslie, Elizabeth, Feingold, Eleanor, Marazita, Mary, Hinds, David, Cox, Timothy, Wang, Sijia, Ruiz Linares, Andrés, Weinberg, Seth
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2017
País:Colombia
Institución:Universidad de Antioquia
Repositorio:Repositorio UdeA
Idioma:inglés
OAI Identifier:oai:bibliotecadigital.udea.edu.co:10495/26749
Acceso en línea:http://hdl.handle.net/10495/26749
Access Level:acceso abierto
Palabra clave:Región Branquial - anatomía e histología
Branchial Region - anatomy & histology
Proteínas de Unión al ADN - genética
DNA-Binding Proteins - genetics
Oído - anatomía e histología
Ear - anatomy & histology
Estudio de Asociación del Genoma Completo
Genome-Wide Association Study
Genotipo
Genotype
Factor de Transcripción PAX9 - genética
PAX9 Transcription Factor - genetics
Sitios de Carácter Cuantitativo - genética
Quantitative Trait Loci - genetics
Receptores Acoplados a Proteínas G - genética
Receptors, G-Protein-Coupled - genetics
Descripción
Sumario: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 expertrater-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 3 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.

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