An EHU study analysing different genetic markers associated with facial features of the European population has shown a strong link between 10 of these markers and the facial morphology of people from the Iberian Peninsula. Belén Navarro, the author of the study, highlights the importance of carrying out research in specific populations to obtain prediction models that can be used to reconstruct a person’s face using DNA samples.

Obtaining data on physical appearance can help guide the search for suspects in criminal cases or the identification of missing persons, and will be extremely useful for predicting external human features, especially facial shape, using DNA analysis. DNA analysis is an essential tool in forensic biology since it allows individual identification by comparing the genetic profiles of human remains with reference samples. The latest advances in genetic forensics seek to determine externally visible characteristics using DNA, which can facilitate identification. However, facial morphology is a highly complex trait.

Researcher Belén Navarro, of the BIOMICs research group of the UPV/EHU, explains that the aim is to “use specific markers to predict the shape of a person’s face at a crime scene or to identify an individual if only skeletal remains are found. DNA is very limiting in forensic samples. We cannot analyse all the markers we would like to.” Therefore, it is important to “try to reduce the number of markers as much as possible and keep those that are more significant or carry more weight”, she added.

Recent genome-wide association studies have shed light on potential markers associated with facial features. In a study carried out by the BIOMICs research group of the University of the Basque Country, which works in the area of forensic genetics, among others, a set of 116 potential DNA markers were selected in order to analyse how these are associated with the facial features of some 500 people from different parts of the Iberian Peninsula. “We selected genes and genetic markers that have previously been associated with facial morphology in other populations in Europe and we tested them here to see if there were any differences”, explained the BIOMICs researcher. We wanted to analyse all of them and to filter out those that would be the most informative in our population, so as to focus only on specific markers in the event of having to use this system. This is very useful when we do not have enough DNA available to be able to look at all of them.”

The EHU’s research team scanned the face of the volunteers, and “we took a set of cephalometric reference points, looked at the variations in facial features (eyes, nose, forehead, chin, narrower faces, wider faces, etc.), and analysed specific parts of the face.” Using saliva samples, they studied the aforementioned genetic markers and “then we analysed whether there was an association between this facial variation and our markers”, Navarro added. This allowed the research team to see “for example, that an area on the forehead is slightly more depressed when a specific genotype (or group of genes) for a marker exists or, if the person has a different genotype, the forehead is more prominent, etc.”, the researcher commented.

The results showed significant associations within different sections of the face: “In particular, 10 of the markers presented a strong association within this local population, and some showed correlations with facial areas that had not been identified in previous research”, stated Navarro.

The importance of carrying out studies in small reference populations

These findings highlight “the importance of analysing candidate markers in diverse reference populations in order to identify robust markers that also provide accurate information”, said the researcher. Although much of the research to date has focused on European populations as a homogeneous group, “our study shows that the population we studied can exhibit differences. These results suggest that it could be useful not only to conduct large-scale European studies, but also to consider specific studies of smaller subpopulations”, she added. This approach could help in obtaining future prediction models.

We need to proceed carefully on this path: “We now need to validate our results by including more people. We have to test in other populations to see whether, for example, these results correspond to the whole of southern Europe or only to our environment.” The group continues to work on this research, using other methods for measuring facial features: “We are now using different measurements that are anthropologically defined: distance between the eyes, between the nose and the mouth, between the corners of the mouth, etc.”, the researcher added. A next step “would be to try to obtain prediction models that show, for example, a specific distance on a person’s face when certain genotypes are identified.” In this way it would be possible “more or less, to reconstruct a person’s face. But to achieve this we need to continue validating these advances in a much wider population”, concluded Navarro.

Additional information

This research work forms part of the doctoral thesis of Belén Navarro, which is co-directed by Marian Martínez de Pancorbo and Iñigo Olalde. Research teams from the University of Granada, University of Zaragoza, Miguel Hernández University, University of Indianapolis and the Panacea research group collaborated in this work.

Bibliographic reference

Belén Navarro-López, Franziska Wilke, Victoria Suárez-Ulloa, Miriam Baeta, Rubén Martos-Fernández, Olatz Moreno-López, Iñigo Olalde, Begoña Martínez-Jarreta, Susana Jiménez, Susan Walsh, Marian M. de Pancorbo

Exploring the association between SNPs and facial morphology in a Spanish population

Scientific Reports

DOI: 10.1038/s41598-025-98748-9