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Abstract
Facial ancestry can be described as variation that exists in facial features that are shared amongst members of a population due to environmental and genetic effects. Even within Europe, faces vary among subregions and may lead to confounding in genetic association studies if unaccounted for. Genetic studies use genetic principal components (PCs) to describe facial ancestry to circumvent this issue. Yet the phenotypic effect of these genetic PCs on the face has yet to be described, and phenotype-based alternatives compared. In anthropological studies, consensus faces are utilized as they depict a phenotypic, not genetic, ancestry effect. In this study, we explored the effects of regional differences on facial ancestry in 744 Europeans using genetic and anthropological approaches. Both showed similar ancestry effects between subgroups, localized mainly to the forehead, nose, and chin. Consensus faces explained the variation seen in only the first three genetic PCs, differing more in magnitude than shape change. Here we show only minor differences between the two methods and discuss a combined approach as a possible alternative for facial scan correction that is less cohort dependent, more replicable, non-linear, and can be made open access for use across research groups, enhancing future studies in this field.
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1 Indiana University-Purdue University Indianapolis, Department of Biology, Indianapolis, USA (GRID:grid.257413.6) (ISNI:0000 0001 2287 3919)
2 KU Leuven, Department of Human Genetics, Leuven, Belgium (GRID:grid.5596.f) (ISNI:0000 0001 0668 7884); Murdoch Children’s Research Institute, Melbourne, Australia (GRID:grid.1058.c) (ISNI:0000 0000 9442 535X); University Hospitals Leuven, Medical Imaging Research Center, Leuven, Belgium (GRID:grid.410569.f) (ISNI:0000 0004 0626 3338)
3 KU Leuven, Department of Human Genetics, Leuven, Belgium (GRID:grid.5596.f) (ISNI:0000 0001 0668 7884); University Hospitals Leuven, Medical Imaging Research Center, Leuven, Belgium (GRID:grid.410569.f) (ISNI:0000 0004 0626 3338)
4 University of Pittsburgh, Department of Human Genetics, Pittsburgh, USA (GRID:grid.21925.3d) (ISNI:0000 0004 1936 9000); University of Pittsburgh, Department of Oral and Craniofacial Sciences, Center for Craniofacial and Dental Genetics, Pittsburgh, USA (GRID:grid.21925.3d) (ISNI:0000 0004 1936 9000)
5 University of Pittsburgh, Department of Human Genetics, Pittsburgh, USA (GRID:grid.21925.3d) (ISNI:0000 0004 1936 9000); University of Pittsburgh, Department of Oral and Craniofacial Sciences, Center for Craniofacial and Dental Genetics, Pittsburgh, USA (GRID:grid.21925.3d) (ISNI:0000 0004 1936 9000); University of Pittsburgh, Department of Anthropology, Pittsburgh, USA (GRID:grid.21925.3d) (ISNI:0000 0004 1936 9000)
6 The Pennsylvania State University, Department of Anthropology, University Park, USA (GRID:grid.29857.31) (ISNI:0000 0001 2097 4281)
7 KU Leuven, Department of Human Genetics, Leuven, Belgium (GRID:grid.5596.f) (ISNI:0000 0001 0668 7884); Murdoch Children’s Research Institute, Melbourne, Australia (GRID:grid.1058.c) (ISNI:0000 0000 9442 535X); University Hospitals Leuven, Medical Imaging Research Center, Leuven, Belgium (GRID:grid.410569.f) (ISNI:0000 0004 0626 3338); ESAT/PSI, KU Leuven, Department of Electrical Engineering, Leuven, Belgium (GRID:grid.5596.f) (ISNI:0000 0001 0668 7884)