CU researchers find genetic links for facial size and shape

August 25, 2016

AURORA, Colo. (Aug. 25, 2016) - While it is clear that there is a strong genetic component to the human face, there are relatively few genes known to impact normal human facial development and facial shape.

In a study published today in PLOS Genetics, an international team of researchers led by a University of Colorado School of Medicine scientist have identified two significant genes associated with measures of human facial size and have identified 10 additional candidates for location of genes affecting human facial shape.

"Gene discovery for human facial development is an important first step for both diagnosing and treating craniofacial syndromes such as cleft palate, and for developing forensic modeling of the human face," said Richard A. Spritz, MD, Professor and Director of the Human Medical Genetics and Genomics Program at the CU School of Medicine on the Anschutz Medical Campus.

The results of the study are the first genome-wide association study of face shape and size for an African population and the results differ from those reported from similar studies in European-derived white adolescents and adults.

The team of scientists studied 3,505 normal African Bantu children and adolescents ages 3 to 21 from the Mwanza region of Tanzania. An important aspect of this study was that this population is very lean, minimizing non-genetic influences on face shape and size, particularly age and excess body fat.

The study found that two genes, SCHIP1 and PDE8A, are associated with measures of human facial size. The researchers tested the finding in the lab on mice and found the genes were indeed involved in the developing face.

"Our findings provide a basis for detailed analyses of the functions of these genes in the developing face, and their roles in determining the normal facial variation that make us both individual different and individually recognizable," Spritz and his colleagues write.

Spritz is the corresponding author of the study and 18 others are listed as authors. Others from the University of Colorado are Joanne B. Cole, Tracey M. Ferrara, Sheri L. Riccardi, Trevor Williams, Hong Li, Kenneth L. Jones, Stephanie A. Santorico. Funding for the work was provided by grants from the National Institutes of Health under the National Institute of Dental and Craniofacial Research FaceBase Initiative, the Center for Inherited Disease Research and the National Institute of Justice.

The report is paired with another study published today by PLOS Genetics that looks at genome-wide association of 20 quantitative facial measurements in 3,118 health individuals of European ancestry. In that study, researchers found evidence of genetic associations involving measures of eye, nose, and facial breadth.

CU's Spritz, Cole, Ferrara, and Santorico contributed to that study.
About the University of Colorado School of Medicine

Faculty at the University of Colorado School of Medicine work to advance science and improve care. These faculty members include physicians, educators and scientists at University of Colorado Health, Children's Hospital Colorado, Denver Health, National Jewish Health, and the Denver Veterans Affairs Medical Center. The school is located on the Anschutz Medical Campus, one of four campuses in the University of Colorado system. To learn more about the medical school's care, education, research and community engagement, visit its web site.

University of Colorado Anschutz Medical Campus

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