Department of Anthropology, Pennsylvania State University, State College, PA, USA.
Department of Electrical Engineering, ESAT/PSI, KU Leuven, Leuven, Belgium.
Nat Genet. 2021 Jan;53(1):45-53. doi: 10.1038/s41588-020-00741-7. Epub 2020 Dec 7.
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.
人脸是复杂的、多部分的，其遗传结构的特征描述仍然具有挑战性。通过对 8246 名欧洲个体的多变量全基因组关联研究荟萃分析，我们确定了 203 个与正常范围面部变异相关的全基因组显著信号（120 个也具有研究范围显著性）。后续分析表明，这些信号周围的区域富含颅神经嵴细胞和颅面组织中的增强子活性，几个区域含有与不同面部表型相关的多个信号，并且有证据表明变体可能存在潜在的协调作用。总之，我们的分析为理解复杂的形态特征是如何由个体和协调的遗传作用塑造的提供了深入的了解。
