Hunting for genes that shape human faces: Initial successes and challenges for the future

Abstract

There is ample evidence from heritability studies, genetic syndromes and experimental animal models that facial morphology is strongly influenced by genes. In this brief review, we present an up-to-date overview of the efforts to identify genes associated with the size and shape of human facial features. We discuss recent methodological advances that have led to breakthroughs, but also the multitude of challenges facing the field. We offer perspective on possible applications of this line of research, particularly in the context of the precision genomics movement.

Keywords: complex genetic traits; face shape; genome-wide association studies; genotype-phenotype correlation; heritability; normal-range variation.