Decryption of Facial Genetics Could Help Repair Facial Deformities Like the Cleft Lip

Researchers were able to link specific genetic signs to certain areas of the face, allowing them to look into possibly repairing certain facial deformities, such as the cleft lip.

Cleft Lip

Cleft Lip. Image Courtesy of James Heilman, MD

The genetics behind the facial shape remains relatively unknown. An international team of researchers has been able to link specific genetic signs to specific areas of the face. This allows us not only to see the signs of normal facial features in the genome but also to imagine that we can treat craniofacial deformities such as the cleft lip. The results of the work were presented on December 7 in the journal Nature genetics.

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Little is known about the control of malformations

Researchers believe that knowledge of the genetic location of normal lip formation can help in locating and identifying where malformations occur. “The face tells the outside world who you are, who you are related to, where your ancestors came from, and even your health,” says Julie White, an anthropological researcher at Penn State University and one of the authors of the study. But we only know a fraction of how faces are formed. The facial structure comes together at the beginning of development, and if things don’t go well, it may have a cleft palate or some other problem, but we don’t know exactly what controls them”.

Researchers have been looking for connections between shared genetics and facial features to understand whether people with similar physical characteristics share a genotype. They used two sets of data: one from the Avon Longitudinal Parent-child Study in the United Kingdom, with 3,566 people, and one from the United States, with 4,680 people. All participants had highly detailed three-dimensional facial images and the researchers placed more than 7,000 dots on the images using a grid mask that was digitally stretched and drawn to fit the contours of each individual’s face. They then divided the face into 63 segments to investigate variations in the small subsets. Finally, they examined the U.S. and U.K. datasets separately to find and replicate genetic sites related to facial features.

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Genetics shared with other parts of the body

“We found in our DNA a wide range of sites that play a role in the development of the human face,” responded Karlijne Indencleef, a biomedical researcher at KU Leuven, Belgium. The researchers identified 203 genomics and analyzed only those genetic sites that have similar associations in both datasets. “If we look at what we found and the previous literature, we see that there is an overlap with our facial genes and genes that were previously involved in non-facial issues, such as limb development and organ and skeletal abnormalities,” says White. There is shared genetics. Things that are related to the face are related to other parts of the body”.

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Some facial deformities are associated with other physical problems, so finding shared genetics isn’t surprising, according to the researchers. Many of the genes identified start to work in the early stages of embryonic development and the researchers identified their physical presentation in adults. “Our post analyses gave us additional evidence, for example, epigenetic analyses have shown that the genetic regions we have found are expressed in cells involved in craniofacial development,” says Karlijne Indencleef. We have labeled sites that may be of interest to validate and better study their exact functions”.


Insights into the genetic architecture of the human face



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