Genetic variation in the Sorbs of eastern Germany in the context of broader European genetic diversity
Open Access
- 31 August 2011
- journal article
- research article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 19 (9), 995-1001
- https://doi.org/10.1038/ejhg.2011.65
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. European Journal of Human Genetics (2011) 19, 995-1001; doi: 10.1038/ejhg.2011.65; published online 11 May 2011Keywords
This publication has 39 references indexed in Scilit:
- Genes predict village of origin in rural EuropeEuropean Journal of Human Genetics, 2010
- Genetic variation in GPR133 is associated with height: genome wide association study in the self-contained population of SorbsHuman Molecular Genetics, 2009
- Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in GermanyEuropean Journal of Human Genetics, 2009
- Isolated populations as treasure troves in genetic epidemiology: the case of the BasquesEuropean Journal of Human Genetics, 2009
- A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany*Journal Of Hypertension, 2009
- The Population Reference Sample, POPRES: A Resource for Population, Disease, and Pharmacological Genetics ResearchAmerican Journal of Human Genetics, 2008
- Genes mirror geography within EuropeNature, 2008
- Correlation between Genetic and Geographic Structure in EuropeCurrent Biology, 2008
- Population study and evaluation of 20 Y-chromosome STR loci in GermansInternational journal of legal medicine, 2006
- Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studiesNature Genetics, 2006