比利时鲁汶大学Peter Claes等研究人员破译影响人类面部形成的遗传因素。相关论文于2020年12月7日在线发表在《自然—遗传学》杂志上。

研究人员表示，Achley和Hall在1991年概括了当代生物学的主要问题之一：在发育过程中如何出现复杂的形态结构以及在进化过程中如何改变形态。这个问题继续困扰着生物学家、遗传学家、人类学家和临床医生近三十年。人脸就是这样一种典型的复杂形态结构，且高度多态，是遗传、细胞和环境因素复杂协调的结果。通过先前的全基因组关联研究（GWAS），已激发下100多个基因座参与正常范围的面部形态塑造，但综合表征影响人脸的遗传结构仍然具有挑战性。 

Title: Insights into the genetic architecture of the human face

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

Issue&Volume: 2020-12-07

Abstract: 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. A multivariate genome-wide association study identifies 203 signals associated with facial variation. These signals are enriched for enhancer activity in cranial neural crest cells and craniofacial tissues.

DOI: 10.1038/s41588-020-00741-7

Source: https://www.nature.com/articles/s41588-020-00741-7