TY - JOUR T1 - Insights into the genetic architecture of the human face JF - bioRxiv DO - 10.1101/2020.05.12.090555 SP - 2020.05.12.090555 AU - Julie D. White AU - Karlijne Indencleef AU - Sahin Naqvi AU - Ryan J. Eller AU - Jasmien Roosenboom AU - Myoung Keun Lee AU - Jiarui Li AU - Jaaved Mohammed AU - Stephen Richmond AU - Ellen E. Quillen AU - Heather L. Norton AU - Eleanor Feingold AU - Tomek Swigut AU - Mary L. Marazita AU - Hilde Peeters AU - Greet Hens AU - John R. Shaffer AU - Joanna Wysocka AU - Susan Walsh AU - Seth M. Weinberg AU - Mark D. Shriver AU - Peter Claes Y1 - 2020/01/01 UR - http://biorxiv.org/content/early/2020/05/14/2020.05.12.090555.abstract N2 - The human face is complex and multipartite, and characterization of its genetic architecture remains intriguingly challenging. Applying GWAS to multivariate shape phenotypes, we identified 203 genomic regions associated with normal-range facial variation, 117 of which are novel. The associated regions are enriched for both genes relevant to craniofacial and limb morphogenesis and enhancer activity in cranial neural crest cells and craniofacial tissues. Genetic variants grouped by their contribution to similar aspects of facial variation show high within-group correlation of enhancer activity, and four SNP pairs display evidence of epistasis, indicating potentially coordinated actions of variants within the same cell types or tissues. In sum, our analyses provide new insights for understanding how complex morphological traits are shaped by both individual and coordinated genetic actions.Competing Interest StatementThe authors have declared no competing interest. ER -