Variation at genes influencing facial morphology are not associated with developmental imprecision in human faces

Sonja Windhager, Helmut Schaschl, Katrin Schäfer, Philipp Mitteröcker, Susanne Huber, Bernard Wallner, Martin Fieder

Facial asymmetries are commonly used as a proxy for human developmental imprecision resulting from inbreeding, and thus reduced genetic heterozygosity. Several environmental factors influence human facial asymmetry (e.g., health care, parasites), but the generalizability of findings on genetic stressors has been limited in humans by sample characteristics (island populations, endogamy) and indirect genetic assessment (inference from pedigrees). In a sample of 3215 adult humans from the Rotterdam Study, we therefore studied the relationship of facial asymmetry, estimated from nine midfacial landmarks, with genetic variation at 102 single nucleotide polymorphism (SNP) loci recently associated with facial shape variation. We further tested whether the degree of individual heterozygosity is negatively correlated with facial asymmetry. An ANOVA tree regression did not identify any SNP relating to either fluctuating asymmetry or total asymmetry. In a general linear model, only age and sex - but neither heterozygosity nor any SNP previously reported to covary with facial shape - was significantly related to total or fluctuating asymmetry of the midface. Our study does not corroborate the common assumption in evolutionary and behavioral biology that morphological asymmetries reflect heterozygosity. Our results, however, may be affected by a relatively small degree of inbreeding, a relatively stable environment, and an advanced age in the Rotterdam sample. Further large-scale genetic studies, including gene expression studies, are necessary to validate the genetic and developmental origin of morphological asymmetries.

Department of Evolutionary Anthropology
Publication date
Peer reviewed
Austrian Fields of Science 2012
301301 Human genetics, 106036 Population genetics
ASJC Scopus subject areas
Agricultural and Biological Sciences(all), Biochemistry, Genetics and Molecular Biology(all), Medicine(all)
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