title: Face shape differs in phylogenetically related populations.
abstract: 3D analysis of facial morphology has delineated facial phenotypes in many medical conditions and detected fine grained differences between typical and atypical patients to inform genotype-phenotype studies. Next-generation sequencing techniques have enabled extremely detailed genotype-phenotype correlative analysis. Such comparisons typically employ control groups matched for age, sex and ethnicity and the distinction between ethnic categories in genotype-phenotype studies has been widely debated. The phylogenetic tree based on genetic polymorphism studies divides the world population into nine subpopulations. Here we show statistically significant face shape differences between two European Caucasian populations of close phylogenetic and geographic proximity from the UK and The Netherlands. The average face shape differences between the Dutch and UK cohorts were visualised in dynamic morphs and signature heat maps, and quantified for their statistical significance using both conventional anthropometry and state of the art dense surface modelling techniques. Our results demonstrate significant differences between Dutch and UK face shape. Other studies have shown that genetic variants influence normal facial variation. Thus, face shape difference between populations could reflect underlying genetic difference. This should be taken into account in genotype-phenotype studies and we recommend that in those studies reference groups be established in the same population as the individuals who form the subject of the study.
authors.affiliation: Department of Paediatric Oncology, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Saskia M J
authors.initials: SM
authors.lastname: Hopman
authors.affiliation: Department of Paediatric Oncology, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Johannes H M
authors.initials: JH
authors.lastname: Merks
authors.affiliation: Molecular Medicine Unit, UCL Institute of Child Health, London, UK.
authors.forename: Michael
authors.initials: M
authors.lastname: Suttie
authors.affiliation: Departments of Paediatrics and Clinical Genetics, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Raoul C M
authors.initials: RC
authors.lastname: Hennekam
authors.affiliation: Molecular Medicine Unit, UCL Institute of Child Health, London, UK.
authors.forename: Peter
authors.initials: P
authors.lastname: Hammond
mesh_terms: D000328:Adult; D005145:Face / Q000033:anatomy & histology*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D009426:Netherlands; D010641:Phenotype; D010802:Phylogeny; D006113:United Kingdom; D044465:White People / Q000235:genetics*