Authors

Doron M. Behar, Rambam Health Care Campus, IsraelFollow
Mait Metspalu, Estonian Biocentre, Evolutionary Biology Group, Estonia
Yael Baran, Tel-Aviv University, Israel
Naama M. Kopelman, Tel-Aviv University, Israel
Bayazit Yunusbayev, Estonian Biocentre, Evolutionary Biology Group, Estonia
Ariella Gladstein, University of Arizona
Shay Tzur, Rambam Health Care Campus, Israel
Havhannes Sahakyan, Estonian Biocentre, Evolutionary Biology Group, Estonia
Ardeshir Bahmanimehr, Institute of Molecular Biology, National Academy of Sciences, Armenia
Levon Yepiskoposyan, Institute of Molecular Biology, National Academy of Sciences, Armenia
Kristiina Tambets, Estonian Biocentre, Evolutionary Biology Group, Estonia
Elza K. Khusnutdinova, Estonian Biocentre, Evolutionary Biology Group, Estonia
Aljona Kusniarevich, Estonian Biocentre, Evolutionary Biology Group, Estonia
Oleg Balanovsky, Russian Academy of Sciences, Russia
Elena Balanovsky, Russian Academy of Sciences, Russia
Lejla Kovacevic, Institute for Genetic Engineering and Biotechnology, Sarajevo
Damir Marjanovic, Institute for Genetic Engineering and Biotechnology, Sarajevo
Evelin Mihailov, University of Tartu, Estonia
Anastasia Kouvatsi, Aristotle University of Thessaloniki, Greece
Costas Traintaphyllidis, Aristotle University of Thessaloniki, Greece
Roy J. King, Stanford University School of MedicineFollow
Ornella Semino, Università di Pavia, Italy
Antonio Torroni, Università di Pavia, Italy
Michael F. Hammer, University of Arizona
Ene Metspalu, University of Tartu, Estonia
Karl Skorecki, Rambam Health Care Campus Israel
Saharon Rosset, Tel-Aviv University, Israel
Eran Halperin, Tel-Aviv University, Israel
Richard Villems, Estonian Biocentre, Evolutionary Biology Group, Estonia
Noah A. Rosenberg, Stanford UniversityFollow

Document Type

Open Access Preprint

Abstract

The origin and history of the Ashkenazi Jewish population have long been of great interest, and advances in high-throughput genetic analysis have recently provided a new approach for investigating these topics. We and others have argued on the basis of genome-wide data that the Ashkenazi Jewish population derives its ancestry from a combination of sources tracing to both Europe and the Middle East. It has been claimed, however, through a reanalysis of some of our data, that a large part of the ancestry of the Ashkenazi population originates with the Khazars, a Turkic-speaking group that lived to the north of the Caucasus region ~1,000 years ago. Because the Khazar population has left no obvious modern descendants that could enable a clear test for a contribution to Ashkenazi Jewish ancestry, the Khazar hypothesis has been difficult to examine using genetics. Furthermore, because only limited genetic data have been available from the Caucasus region, and because these data have been concentrated in populations that are genetically close to populations from the Middle East, the attribution of any signal of Ashkenazi-Caucasus genetic similarity to Khazar ancestry rather than shared ancestral Middle Eastern ancestry has been problematic. Here, through integration of genotypes on newly collected samples with data from several of our past studies, we have assembled the largest data set available to date for assessment of Ashkenazi Jewish genetic origins. This data set contains genome-wide single-nucleotide polymorphisms in 1,774 samples from 106 Jewish and non- Jewish populations that span the possible regions of potential Ashkenazi ancestry: Europe, the Middle East, and the region historically associated with the Khazar Khaganate. The data set includes 261 samples from 15 populations from the Caucasus region and the region directly to its north, samples that have not previously been included alongside Ashkenazi Jewish samples in genomic studies. Employing a variety of standard techniques for the analysis of populationgenetic structure, we find that Ashkenazi Jews share the greatest genetic ancestry with other Jewish populations, and among non-Jewish populations, with groups from Europe and the Middle East. No particular similarity of Ashkenazi Jews with populations from the Caucasus is evident, particularly with the populations that most closely represent the Khazar region. Thus, analysis of Ashkenazi Jews together with a large sample from the region of the Khazar Khaganate corroborates the earlier results that Ashkenazi Jews derive their ancestry primarily from populations of the Middle East and Europe, that they possess considerable shared ancestry with other Jewish populations, and that there is no indication of a significant genetic contribution either from within or from north of the Caucasus region.

03 Behar Supplemental File 1.xlsx (166 kB)
Supplemental File 1

03 Behar Supplemental Table 1.xlsx (23 kB)
Supplemental Table 1

03 Behar Supplemental Table 2.xlsx (10 kB)
Supplemental Table 2

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