Health and Medicine Technology

Genetic Links for Facial Size and Shape Identified

face genetics

We all know that the human face is shaped by genetics. Quite simply, kids tend to look like their parents. Which genes are responsible for facial size and facial shape is however not really known.

Two significant genes linked to measures of human facial size and an additional 10 contenders for the location of genes affecting human facial shape, have recently been identified by an international team of researchers. The study was published in in PLOS Genetics. The research was led by a University of Colorado School of Medicine scientist.

3D facial scan
3D facial scan with annotated landmarks. (Image cedits Plos Genetics / Richard A. Spritz)

Professor and Director of the Human Medical Genetics and Genomics Program at the CU School of Medicine on the Anschutz Medical Campus, Richard A. Spritz, MD, notes that this research will help for both diagnosing and treating craniofacial defects such as cleft palate. Another application of the study would be in developing forensic modeling of the human face.

The results obtained from similar studies in European-derived white adolescents and adults differ from this research, which is the first genome-wide association study of face size and shape for an African population. Residents from the Mwanza region of Tanzania are very lean, minimizing the effect of non-genetic influences such as excess body fat and age on face size and shape. A group of 3,505 normal African Bantu children and adolescents ages 3 to 21 from the region were studied. Two genes, SCHIP1 and PDE8A, were found to be associated with measures of human facial size. The researchers confirmed this by tested the finding on mice in the lab.

Spritz and his colleagues suggest that this study forms a foundation for detailed analyses of the roles of these genes in determining the normal facial variation that make us both individually recognizable and individual different; and their functions in the developing face.

face shape
This figure outlines the main findings of the second study. (Image credit: John Shaffer and colleagues; CCAL)

The report is combined with another study published by PLOS Genetics. A group of 3,118 healthy individuals of European ancestry was studied to determine the genome-wide association of 20 quantitative facial measurements. Evidence was found of genetic associations involving measures of facial, nose and eye breadth.