An international team of researchers has connected specific genetic regions that influence facial features. This means they can see the signals of normal facial features in the genome, the researchers said. Also, the researchers believe their work can shed light on craniofacial malformations such as cleft lip and palate.
The study used three-dimensional facial data collected from more than 3,566 15-year-olds by Dr. Stephen Richmond of the Cardiff University School of Dentistry in collaboration with the University of Bristol as part of the Avon Longitudinal Study of Parents and Children birth cohort story as well as data from 4,680 individuals in the United States.
Using advanced genetic and computerized techniques, the researchers were able to relate specific facial features to areas on the DNA and specific genes.
“Essentially, the individual components of the face are defined by genes and genetic interactions, and in this study, 203 genetic regions have been identified that influence facial features,” said Richmond, a professor of orthodontics.
“Some of the genes highlighted in this study have also been shown to be involved in other organ development. This is not surprising as craniofacial anomalies are usually associated with other medical conditions, and the findings of this study will provide further insight in the shared genetics in cranial-facial and whole-body development including some common medical conditions,” Richmond said.
“Indeed, this fits in with other work we have done and are currently undertaking with face shape being associated with medical conditions such as asthma, sleep disorder breathing, and high blood pressure,” said Richmond.
There have been significant advances in knowledge over the past eight years thanks to collaborations in data, techniques, and expertise over 18 institutions in four countries, Richmond said.
“As a clinical orthodontist, these are exciting findings that will improve our understanding of normal craniofacial development as well as why craniofacial anomalies develop such as cleft lip and palate,” he said.
“In addition, the validation of these gene-face shape associations will lead to improved understanding and of the origins of minor and major craniofacial anomalies leading to better diagnoses and targeted advanced treatments resulting in better treatment outcomes,” he said.
The study, “Insights Into the Genetic Architecture of the Human Face,” was published by Nature Genetics.