Tooth shape determined by genes, research reveals

07 January 2025

Genetic variants that determine the shape of your teeth have been identified by a team co-led by UCL researchers.

In a paper published in Current Biology, scientists found substantial tooth differences between ethnicities, potentially due in part to a gene inherited from Neanderthals that was only found in study participants of European origin.

Kaustubh Adhikari, co-lead author, said, “Teeth can tell us a great deal about human evolution, as well-preserved ancient teeth are particularly important to archaeologists, shedding light on milestones such as when we transitioned to cooked food and human tooth sizes began to shrink. But little is known about the genetic basis of variation within the modern human population on tooth size and shape, partly due to challenges in measuring teeth.

“We have now identified numerous genes that impact the development of our teeth, some of which are responsible for differences between ethnic groups.”

The study used data from 882 volunteers in Colombia, of mixed European, Native American and African ancestry, including dental crown measurements (dimensions of the part of the tooth visible above the gums), derived from 3D scans of dental plaster casts. The researchers compared these measurements with the participants’ genetic information in a genome-wide association study, using an analysis approach called multiomics that brings together numerous data sources.

The international team identified 18 genome regions that influence the size and shape of different groups of teeth, with 17 that had not been previously linked to tooth dimensions.

One of the novel associations was on a gene believed to be inherited from Neanderthals due to interbreeding with ancient humans. This genetic variant, which contributes to the biological pathway of tooth development, was only found in those of European descent. Carriers of the variant had thinner incisors (thickness of the incisors, the eight teeth situated at the front of the mouth, was measured from back to front). Overall, those of European descent had smaller teeth.

The researchers also found associations with tooth dimensions on a gene, EDAR, that was already known to impact incisor shape in East Asian people. The study found that the gene also determined the width of all teeth.

Qing Li, first author, said, “Some of the genes that contribute to the normal variation of tooth dimensions among healthy people can also contribute to pathogenic variation, such as teeth failing to grow in or other dental health conditions. We hope that our findings could be useful medically, if people with particular dental problems could undergo genetic tests to help in diagnosis, or if some dental anomalies could be treated one day with gene therapies.”