rs11337200 - TRPS1

Magnitude 2.0 · 1 study on file

Reported associations

• Insights into the genetic architecture of the human face - Nature genetics (2021) · White JD, Indencleef K, Naqvi S, Eller RJ, Hoskens H, Roosenboom J, Lee MK, Li J, Mohammed J, Richmond S, Quillen EE, Norton HL, Feingold E, Swigut T, Marazita ML, Peeters H, Hens G, Shaffer JR, Wysocka J, Walsh S, Weinberg SM, Shriver MD, Claes P · PubMed 33288918

  ABSTRACT: The human face is complex and multipartite, and characterization of its genetic architecture remains challenging. Using a multivariate genome-wide association study (GWAS) meta-analysis of 8,246 European individuals, we identified 203 genome-wide significant signals (120 also study-wide significant) associated with normal-range facial variation. Follow-up analyses find that the regions surrounding these signals are enriched for enhancer activity in cranial neural crest cells and craniofacial tissues, several regions harbor multiple signals with associations to different facial phenotypes, and there is evidence for potential coordinated actions of variants. In sum, our analyses provide insights for understanding how complex morphological traits are shaped by both individual and co

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