Abstract
Population isolates have long been of interest to genetic epidemiologists because of their potential to increase power to detect disease-causing genetic variants. The Sorbs of Germany are considered as cultural and linguistic isolates and have recently been the focus of disease association mapping efforts. They are thought to have settled in their present location in eastern Germany after a westward migration from a largely Slavic-speaking territory during the Middle Ages. To examine Sorbian genetic diversity within the context of other European populations, we analyzed genotype data for over 30 000 autosomal single-nucleotide polymorphisms from over 200 Sorbs individuals. We compare the Sorbs with other European individuals, including samples from population isolates. Despite their geographical proximity to German speakers, the Sorbs showed greatest genetic similarity to Polish and Czech individuals, consistent with the linguistic proximity of Sorbian to other West Slavic languages. The Sorbs also showed evidence of subtle levels of genetic isolation in comparison with samples from non-isolated European populations. The level of genetic isolation was less than that observed for the Sardinians and French Basque, who were clear outliers on multiple measures of isolation. The finding of the Sorbs as only a minor genetic isolate demonstrates the need to genetically characterize putative population isolates, as they possess a wide range of levels of isolation because of their different demographic histories.
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Acknowledgements
The authors thank all sample donors, Knut Krohn (Microarray Core Facility of the Interdisciplinary Centre for Clinical Research, University of Leipzig) for the genotyping support, and Mark I McCarthy and Nigel William Rayner for analytical and bioinformatics support. Financial support was received from the Andrew W Mellon Foundation (KV), Searle Scholars Program (JN), German Research Council (KFO-152), IZKF (B27) and the German Diabetes Association. AG and MSc were funded by the Leipzig Interdisciplinary Research Cluster of Genetic Factors, Clinical Phenotypes and Environment (LIFE Center, University of Leipzig). LIFE is funded by means of the European Union, by the European Regional Development Fund (ERFD) and by means of the Free State of Saxony within the framework of the excellence initiative. IK and DG were funded by grants from the Slovak Diabetes Association and the ERDF (Transendogen/26240220051).
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Veeramah, K., Tönjes, A., Kovacs, P. et al. Genetic variation in the Sorbs of eastern Germany in the context of broader European genetic diversity. Eur J Hum Genet 19, 995–1001 (2011). https://doi.org/10.1038/ejhg.2011.65
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DOI: https://doi.org/10.1038/ejhg.2011.65
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