info:eu-repo/semantics/article
Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment
Registro en:
0002-9297
10.1016/j.ajhg.2017.10.001
1537-6605
Autor
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
Institución
Resumen
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. COL0006723 COL0006769