The 88th Annual Meeting of the American Association of Physical Anthropologists (2019)


Investigating human stature variation in prehistory with per-individual ancient DNA and osteological data

STEPHANIE MARCINIAK1, CHRISTINA M. BERGEY1, ANA MARIA SILVA2, AGATA HAŁUSZKO3,4, MIROSŁAW FURMANEK3, BARBARA VESELKA5, PETR VELEMINSKY6, GIUSEPPE VERCELLOTTI7, JOACHIM WAHL8,9, KRISZTIÁN KISS10, TAMÁS HAJDU10, NOREEN VON CRAMON-TAUBADEL11, RON PINHASI12 and GEORGE PERRY1,13,14.

1Department of Anthropology, Pennsylvania State University, 2Department of Life Sciences, University of Coimbra, 3Institute of Archaeology, University of Wroclaw, 4Archeolodzy.org Foundation, 5Department of Archaeology, Leiden University, 6Department of Anthropology, Prague Natural History Museum, 7Department of Anthropology, Ohio State University, 8Paleoanthropology, Senckenberg Centre for Human Evolution and Palaeoenvironment, University of Tübingen, 9State Office for Cultural Heritage Management Baden-Württemberg, Osteology, 10Department of Biological Anthropology, Eötvös Loránd University, 11Buffalo Human Evolutionary Morphology Lab, Department of Anthropology, University at Buffalo, 12Department of Anthropology, University of Vienna, 13Department of Biology, Pennsylvania State University, 14DFG Center for Advanced Studies, University of Tübingen

March 28, 2019 2:45, CC Room 26 C Add to calendar

In bioarchaeology, achieved adult (skeletal) height is a proxy for childhood health. However, in addition to environmental influences, adult height is also greatly affected by genetic variation. Recent genotype-phenotype association studies conducted with hundreds of thousands of modern individuals in combination with ancient DNA provide an opportunity to quantify the heritable component of height in the skeletal remains of prehistoric individuals, to then facilitate more precise investigations of how environmental factors may have affected achieved adult stature in past communities. We compared ‘predicted’ genetic height and ‘achieved’ osteological height on a per-individual basis for 65 ancient individuals from sites in Europe spanning the Upper Paleolithic to Iron Age (33000-1200 BP) by combining published ancient DNA data (>0.7X sequencing depth coverage) with skeletal measurements for each individual. Genotypes were imputed using the Human Genome Diversity Project panels and height genetic scores were estimated using summary statistics from a modern European dataset. We predicted height based on a quality-filtered dataset of 6,864,638 single nucleotide polymorphisms, with 34,000 to 1.18 million SNPs scored per ancient individual (0.8-51% genotype call rate; samples with >99% missingness were excluded). Long bone maximum length measurements were used to estimate osteological stature with a regression-based approach (standard error 1.86-2.73%). Allelic height scores and osteological height were positively correlated (r2=0.2025, P=0.0017). By more precisely quantifying per-individual differences between realized osteological and potential genetic heights, our approach can ultimately be used to inform how gene-environment interactions impacted individual growth trajectories in diverse contexts across prehistory.