Details

Autor(en) / Beteiligte

• White, Julie D
• Indencleef, Karlijne
• Naqvi, Sahin
• Eller, Ryan J
• Hoskens, Hanne
• Roosenboom, Jasmien
• Lee, Myoung Keun
• Li, Jiarui
• Mohammed, Jaaved
• Richmond, Stephen
• Quillen, Ellen E
• Norton, Heather L
• Feingold, Eleanor
• Swigut, Tomek
• Marazita, Mary L
• Peeters, Hilde
• Hens, Greet
• Shaffer, John R
• Wysocka, Joanna
• Walsh, Susan
• Weinberg, Seth M
• Shriver, Mark D
• Claes, Peter

Titel

Insights into the genetic architecture of the human face

Ist Teil von

• Nature genetics, 2021-01, Vol.53 (1), p.45-53

Ort / Verlag

United States: Nature Publishing Group

Erscheinungsjahr

2021

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• The human face is complex and multipartite, and characterization of its genetic architecture remains challenging. Using a multivariate genome-wide association study 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 indicate 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 summary, our analyses provide insights into the understanding of how complex morphological traits are shaped by both individual and coordinated genetic actions.