title: No evidence from genome-wide data of a Khazar origin for the Ashkenazi Jews.
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 from 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 population-genetic structure, we found 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 to populations from the Caucasus is evident, particularly 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.
authors: Molecular Medicine Laboratory, Rambam Health Care Campus, Haifa, Israel AND Estonian Biocentre, Evolutionary Biology Group, Tartu, Estonia.
authors: Doron M
authors: DM
authors: Behar
authors: Estonian Biocentre, Evolutionary Biology Group, Tartu, Estonia AND Department of Evolutionary Biology, University of Tartu, Tartu, Estonia. AND Department of Integrative Biology, University of California, Berkeley, CA.
authors: Mait
authors: M
authors: Metspalu
authors: Blavatnik School of Computer Science, Tel-Aviv University, Tel-Aviv, Israel.
authors: Yael
authors: Y
authors: Baran
authors: Porter School of Environmental Studies, Department of Zoology, Tel-Aviv University, Tel-Aviv, Israel.
authors: Naama M
authors: NM
authors: Kopelman
authors: Estonian Biocentre, Evolutionary Biology Group, Tartu, Estonia. AND Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, Russia.
authors: Bayazit
authors: B
authors: Yunusbayev
authors: ARL Division of Biotechnology, University of Arizona, Tucson, AZ.
authors: Ariella
authors: A
authors: Gladstein
authors: Molecular Medicine Laboratory, Rambam Health Care Campus, Haifa, Israel.
authors: Shay
authors: S
authors: Tzur
authors: Estonian Biocentre, Evolutionary Biology Group, Tartu, Estonia. AND Laboratory of Ethnogenomics, Institute of Molecular Biology, National Academy of Sciences, Yerevan, Armenia.
authors: Hovhannes
authors: H
authors: Sahakyan
authors: Laboratory of Ethnogenomics, Institute of Molecular Biology, National Academy of Sciences, Yerevan, Armenia.
authors: Ardeshir
authors: A
authors: Bahmanimehr
authors: Laboratory of Ethnogenomics, Institute of Molecular Biology, National Academy of Sciences, Yerevan, Armenia.
authors: Levon
authors: L
authors: Yepiskoposyan
authors: Estonian Biocentre, Evolutionary Biology Group, Tartu, Estonia.
authors: Kristina
authors: K
authors: Tambets
authors: Estonian Biocentre, Evolutionary Biology Group, Tartu, Estonia. AND Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, Russia. AND Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa, Russia.
authors: Elza K
authors: EK
authors: Khusnutdinova
authors: Estonian Biocentre, Evolutionary Biology Group, Tartu, Estonia.
authors: Alena
authors: A
authors: Kushniarevich
authors: Vavilov Institute for General Genetics, Russian Academy of Sciences, Moscow, Russia. AND Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia.
authors: Oleg
authors: O
authors: Balanovsky
authors: Vavilov Institute for General Genetics, Russian Academy of Sciences, Moscow, Russia. AND Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia.
authors: Elena
authors: E
authors: Balanovsky
authors: Institute for Genetic Engineering and Biotechnology, Sarajevo, Bosnia and Herzegovina. AND Faculty of Pharmacy, University of Sarajevo, Sarajevo, Bosnia and Herzegovina.
authors: Lejla
authors: L
authors: Kovacevic
authors: Institute for Genetic Engineering and Biotechnology, Sarajevo, Bosnia and Herzegovina. AND Genos doo, Zagreb, Croatia.
authors: Damir
authors: D
authors: Marjanovic
authors: Estonian Genome Center, University of Tartu, Tartu, Estonia.
authors: Evelin
authors: E
authors: Mihailov
authors: Department of Genetics, Development and Molecular Biology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors: Anastasia
authors: A
authors: Kouvatsi
authors: Department of Genetics, Development and Molecular Biology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors: Costas
authors: C
authors: Triantaphyllidis
authors: Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA.
authors: Roy J
authors: RJ
authors: King
authors: Dipartimento di Biologia e Biotecnologie "Lazzaro Spallanzani," Università di Pavia, Pavia, Italy. AND Centro Interdipartimentale "Studi di Genere," Università di Pavia, Pavia, Italy.
authors: Ornella
authors: O
authors: Semino
authors: Dipartimento di Biologia e Biotecnologie "Lazzaro Spallanzani," Università di Pavia, Pavia, Italy.
authors: Antonio
authors: A
authors: Torroni
authors: ARL Division of Biotechnology, University of Arizona, Tucson, AZ.
authors: Michael F
authors: MF
authors: Hammer
authors: Department of Evolutionary Biology, University of Tartu, Tartu, Estonia.
authors: Ene
authors: E
authors: Metspalu
authors: Molecular Medicine Laboratory, Rambam Health Care Campus, Haifa, Israel. AND Ruth and Bruce Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Haifa, Israel.
authors: Karl
authors: K
authors: Skorecki
authors: Department of Statistics and Operations Research, School of Mathematical Sciences, Tel-Aviv University, Tel-Aviv, Israel.
authors: Saharon
authors: S
authors: Rosset
authors: Blavatnik School of Computer Science, Tel-Aviv University, Tel-Aviv, Israel. AND Department of Molecular Microbiology and Biotechnology, George Wise Faculty of Life Science, Tel- Aviv University, Tel-Aviv, Israel. AND International Computer Science Institute, Berkeley, CA.
authors: Eran
authors: E
authors: Halperin
authors: Estonian Biocentre, Evolutionary Biology Group, Tartu, Estonia. AND Department of Evolutionary Biology, University of Tartu, Tartu, Estonia. AND Estonian Academy of Sciences, Tallinn, Estonia.
authors: Richard
authors: R
authors: Villems
authors: Department of Biology, Stanford University, Stanford, CA.
authors: Noah A
authors: NA
authors: Rosenberg
mesh_terms: D018436:Ancient Lands / Q000208:ethnology; D005060:Europe / Q000208:ethnology; D005260:Female; D005828:Genetics, Population / Q000379:methods; D055106:Genome-Wide Association Study; D049690:History, Ancient; D049691:History, Medieval; D006801:Humans; D007585:Jews / Q000235:genetics* / Q000266:history; D008297:Male; D008877:Middle East / Q000208:ethnology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics