Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment.

ABSTRACT: 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

SUBMITTER: Shaffer JR 

PROVIDER: S-EPMC5812923 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature