A new strategy for capturing the 3D shape of the human face draws on data from sibling pairs and leads to identification of novel links between facial shape traits and specific locations within the human genome. Hanne Hoskens of the Department of Human Genetics at Katholieke Universiteit in Leuven, Belgium, and colleagues present these findings in the open-access journal PLOS Genetics.
The ability to capture the 3D shape of the human face--and how it varies between individuals with different genetics--can inform a variety of applications, including understanding human evolution, planning for surgery, and forensic sciences. However, existing tools for linking genetics to physical traits require input of simple measurements, such as distance between the eyes, that do not adequately capture the complexities of facial shape.
Now, Hoskens and colleagues have developed a new strategy for capturing these complexities in a format that can then be studied with existing analytical tools. To do so, they drew on the facial similarities often seen between genetically related siblings. The strategy was initially developed by learning from 3D facial data from a group of 273 pairs of siblings of European ancestry, which revealed 1,048 facial traits that are shared between siblings--and therefore presumably have a genetic basis.
The researchers then applied their new strategy for capturing face shape to 8,246 individuals of European ancestry, for whom they also had genetic information. This produced data on face-shape similarities between siblings that could then be combined with their genetic data and analyzed with existing tools for linking genetics to physical traits. Doing so revealed 218 locations within the human genome, or loci, that were associated with facial traits shared by siblings.
Further examination of the 218 loci showed that some are the sites of genes that have previously been linked to embryonic facial development and abnormal development of head and facial bones.
The authors note that this study could serve as the basis for several different directions of future research, including replication of the findings in larger populations, and investigation of the identified genetic loci in order to better understand the biological processes involved in facial development.
Hoskens adds, "Since siblings are likely to share facial features due to close kinship, traits that are biologically relevant can be extracted from phenotypically similar sibling pairs."
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Peer-reviewed; Experimental study; People
In your coverage please use this URL to provide access to the freely available article in PLOS Genetics: http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1009528
Citation: Hoskens H, Liu D, Naqvi S, Lee MK, Eller RJ, Indencleef K, et al. (2021) 3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies. PLoS Genet 17(5): e1009528. https://doi.org/10.1371/journal.pgen.1009528
Funding: The KU Leuven research team (P.C., H.P., G.H.) and analyses were supported by the National Institutes of Health (1-R01-DE027023), The Research Fund KU Leuven (BOF-C1, C14/15/081) and The Research Program of the Research Foundation - Flanders (Belgium) (FWO, G078518N). The collaborators at the University of Pittsburgh (S.M.W., J.R.S.) were supported by the National Institute of Dental and Craniofacial Research (U01-DE020078, R01-DE016148, and R01-DE027023). Funding for genotyping by the National Human Genome Research Institute (X01-HG007821 and X01-HG007485) and funding for initial genomic data cleaning by the University of Washington provided by contract HHSN268201200008I from the National Institute for Dental and Craniofacial Research awarded to the Center for Inherited Disease Research. The collaborators at the Pennsylvania State University (M.D.S.) were supported by the Center for Human Evolution and Development at Penn State, the Science Foundation of Ireland Walton Fellowship (04.W4/B643), the US National Institute of Justice (2008-DN-BX-K125 and 2018-DU-BX-0219), the US Department of Defense, and the University of Illinois Interdisciplinary Innovation Initiative Research Grant. The collaborators at the Indiana University-Purdue University Indianapolis (S.W.) were supported by the National Institute of Justice (2015-R2-CX-0023, 2014-DN-BX-K031, and 2018-DU-BX-0219). The collaborators at Stanford University (J.W.) were supported by the National Institutes of Health (1-R01-DE027023 and U01-DE024430), the Howard Hughes Medical Institute, and the March of Dimes Foundation (1-FY15-312). The UK Medical Research Council and Wellcome (Grant ref: 102215/2/13/2) and the University of Bristol provide core support for ALSPAC. The publication is the work of the authors and H.H. and P.C. will serve as guarantors for the contents of this paper. A comprehensive list of grants funding is available on the ALSPAC website http://www.bristol.ac.uk/alspac/external/documents/grant-acknowledgements.pdf). ALSPAC GWAS data was generated by Sample Logistics and Genotyping Facilities at Wellcome Sanger Institute and LabCorp (Laboratory Corporation of America) using support from 23andMe. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
Competing Interests: The authors have declared that no competing interests exist.
Journal
PLoS Genetics