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Publicacion

Titulo:	Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment
Autores:	SHAFFER JR LI J LEE MK ROOSENBOOM J ORLOVA E ADHIKARI K GALLO C POLETTI G SCHULER-FACCINI L BORTOLINI MC SAMUEL CANIZALES QUINTEROS ROTHHAMMER F BEDOYA G GONZALEZ-JOSE R PFEFFER PE WOLLENSCHLAEGER CA HECHT JT WEHBY GL MORENO LM DING A JIN L YANG Y CARLSON JC LESLIE EJ FEINGOLD E MARAZITA ML HINDS DA COX TC WANG S RUIZ-LINARES A WEINBERG SM
Tipo de Licencia:	http://creativecommons.org/licenses/by-nc-nd/4.0
Fecha de Publicación:	30 de Noviembre de 2017
Resumen:	The genetic basis of earlobe attachment has been a matter of debate since the early 20(th) 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 x 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.
Editorial:	AMERICAN JOURNAL OF HUMAN GENETICS
Idioma:	Ingles
Palabras Clave:	Adolescent Adult Animals Branchial Region/anatomy & histology Child Child Preschool DNA-Binding Proteins/genetics Ear/anatomy & histology Edar Receptor/genetics Genome-Wide Association Study Genotype Humans Mice Middle Aged Mitochondrial Proteins/genetics Multifactorial Inheritance/genetics PAX9 Transcription Factor/genetics Proteins/genetics Quantitative Trait Loci/*genetics Receptors G-Protein-Coupled/genetics Ribosomal Proteins/genetics Transcription Factors/genetics Young Adult
URL:	https://repositorio.inmegen.gob.mx/record/265

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