Abstract
New Entries in the Lottery of Facial GWAS Discovery.
Highlights
These two genome-wide association studies (GWAS) provide some new and exciting loci, datasets, and approaches
We are all familiar with the strong genetic control of faces seen in the almost indistinguishable facial appearance of identical twins, similarities within families and populations, as well as shared facial characteristics in medical syndromes
Future studies bear the responsibility to investigate earlier findings for replication, and with these two new facial GWAS, this list has tripled in length
Summary
These two GWAS provide some new and exciting loci, datasets, and approaches. The increased list of craniofacial genes brings us closer to a better understanding of facial development and disease. Our understanding of the genetic architecture of normal-range human facial variation has remained largely uninvestigated, until recently. Genes affecting the development of the face have been studied for decades using pedigree-based analyses, molecular biology, and animal models, the discovery of genetic variants affecting normal-range facial variation using GWAS is still in its infancy.
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