No indication of Khazar genetic ancestry among Ashkenazi Jews. M. Metspalu1,13,14, D. M. Behar2,1,14, Y. Baran3, S. Rosset4, N. Kopelman5, B. Yunusbayev1,6, A. Gladstein7, M. F. Hammer7, S. Tzur2, E. Halperin3,8,9, K. Skorecki2,10, R. Villems1,11, N. A. Rosenberg12 1) Evolutionary Biology, Estonian Biocentre & Tartu Univ, Tartu, Estonia; 2) Molecular Medicine Laboratory, Rambam Health Care Campus, Haifa 31096, Israel; 3) The Blavatnik School of Computer Science, Tel Aviv University, Tel-Aviv 69978, Israel; 4) Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; 5) Porter School of Environmental Studies, Department of Zoology, Tel Aviv University, Tel Aviv 69978, Israel; 6) Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa 450054, Russia; 7) ARL Division of Biotechnology, University of Arizona, Tucson, Arizona 85721, USA; 8) Department of Molecular Microbiology and Biotechnology, George Wise Faculty of Life Science, Tel-Aviv University, Tel-Aviv 69978, Israel; 9) International Computer Science Institute, Berkeley, California 94704, USA; 10) Ruth and Bruce Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Haifa 31096, Israel; 11) Estonian Academy of Sciences, Tallinn 10130, Estonia; 12) Department of Biology, Stanford University, Stanford, California 94305, USA; 13) Department of Integrative Biology, University of California Berkeley, 94720, USA; 14) these authors contributed equally.

   The origin and history of the Ashkenazi Jewish population have long been of great interest. Most studies have concluded that the population derives its genetic ancestry from both Europe and the Middle East, and that it retains high genetic similarity to other Jewish groups such as the Sephardi Jews in Europe and Jewish communities in Northern Africa. It has recently been claimed, however, that a large part of the ancestry of the Ashkenazi population originates with the Khazars, a conglomerate of multi-ethnic, mostly Turkic-speaking tribes who consolidated into a powerful state just north of the Caucasus mountains between ca. 1,400 to 1,000 years ago. It has been difficult to explicitly test for Khazar contributions into Ashkenazi Jews, because it is not clear which extant populations can be used to represent modern descendants of the Khazars, and because the proximity of the southern Caucasus region to the Middle East makes it difficult to attribute any potential signal of Caucasus ancestry to Khazars rather than Middle Eastern populations. Here, we assemble the largest sample set available to date for assessment of Ashkenazi Jewish genetic origins, containing genome-wide single-nucleotide polymorphism data in 1,774 samples from 107 Jewish and non-Jewish populations that span the possible regions of potential Ashkenazi Jewish ancestry: Europe, the Middle East, and 15 populations from the region historically associated with the Khazar kingdom at its peak. Employing a variety of standard techniques for the analysis of population structure, we find that Ashkenazi Jewish samples share the greatest genetic ancestry with other Jewish populations, and among non-Jewish populations, with groups from Mediterranean Europe and the Middle East, and that they have no particular signal of genetic sharing with populations from the Caucasus. Thus, analysis of the most comprehensive set of Jewish and other Middle Eastern and European populations together with a large sample from the region of the Khazar kingdom does not support the hypothesis of a significant contribution of the elusive Khazars into the gene pool of the Ashkenazi Jews.

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