Genetic variation in the Sorbs of eastern Germany in the context of broader European genetic diversity

Krishna R Veeramah^1,2,3,8, Anke Tönjes^4,8, Peter Kovacs⁴, Arnd Gross^5,6, Daniel Wegmann¹, Patrick Geary³, Daniela Gasperikova⁷, Iwar Klimes⁷, Markus Scholz^5,6, John Novembre¹ and Michael Stumvoll⁴

1. ¹Department of Eco & Evo Biol, Interdepartmental Program in Bioinformatics, University of California, Los Angeles, CA, USA
2. ²Center for Society and Genetics, University of California, Los Angeles, CA, USA
3. ³Department of History, University of California, Los Angeles, CA, USA
4. ⁴Department of Medicine, University of Leipzig, Leipzig, Germany
5. ⁵Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany
6. ⁶LIFE Center (Leipzig Interdisciplinary Research Cluster of Genetic Factors, Phenotypes and Environment), University of Leipzig, Leipzig, Germany
7. ⁷Institute of Experimental Endocrinology, Slovak Academy of Sciences, Bratislava, Slovak Republic

Correspondence: Dr J Novembre, Department of Ecology and Evolutionary Biology, University of California, Los Angeles, 621 Charles E. Young Dr South, Box 951606, Los Angeles, CA 90095-1606, USA. Tel: +310 825 4065; E-mail: jnovembre@ucla.edu; Professor Michael Stumvoll, Department of Medicine, University of Leipzig, Liebigstr 18, 04103 Leipzig, Germany. Tel: +49 341 9713380; E-mail: michael.stumvoll@medizin.uni-leipzig.de

⁸Joint-first authors.

Received 22 October 2010; Revised 9 March 2011; Accepted 16 March 2011; Published online 11 May 2011.

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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.

Keywords: 

Sorbs; principle component analysis; genetic isolates; genetic diversity; population history; genetic distance

http://www.nature.com/ejhg/journal/v19/n9/abs/ejhg201165a.html