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. [NIH]
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. [NIH]

An international team of researchers led by a University of Colorado School of Medicine scientist has identified two significant genes associated with measures of human facial size and has 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, M.D., 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 (“Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape”), published in PLoS Genetics, 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 3505 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 nongenetic 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,” Dr. Spritz and his colleagues write.

The report is paired with another study (“Genomewide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology”) simultaneously published in PLoS Genetics that looks at genome-wide association of 20 quantitative facial measurements in 3118 health individuals of European ancestry. In that study, researchers found evidence of genetic associations involving measures of eye, nose, and facial breadth.








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