Estructura del genoma del pueblo judio

Nature advance online publication 9 June 2010 | doi:10.1038/nature09103; Received 9 December 2009; Accepted 21 April 2010; Published online 9 June 2010

The genome-wide structure of the Jewish people

Doron M. Behar^1,2,14, Bayazit Yunusbayev^2,3,14, Mait Metspalu^2,14, Ene Metspalu², Saharon Rosset⁴, Jüri Parik², Siiri Rootsi², Gyaneshwer Chaubey², Ildus Kutuev^2,3, Guennady Yudkovsky^1,5, Elza K. Khusnutdinova³, Oleg Balanovsky⁶, Ornella Semino⁷, Luisa Pereira^8,9, David Comas¹⁰, David Gurwitz¹¹, Batsheva Bonne-Tamir¹¹, Tudor Parfitt¹², Michael F. Hammer¹³, Karl Skorecki^1,5 & Richard Villems²

1. Molecular Medicine Laboratory, Rambam Health Care Campus, Haifa 31096, Israel
2. Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia
3. Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa 450054, Russia
4. Department of Statistics and Operations Research, School of Mathematical Sciences, Tel Aviv University, Tel Aviv 69978, Israel
5. Rappaport Faculty of Medicine and Research Institute, Technion – Israel Institute of Technology, Haifa 31096, Israel
6. Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow 115478, Russia
7. Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia 27100, Italy
8. Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Porto 4200-465, Portugal
9. Faculdade de Medicina, Universidade do Porto, Porto 4200-319, Portugal
10. Institute of Evolutionary Biology (CSIC-UPF), CEXS-UPF-PRBB and CIBER de Epidemiología y Salud Pública, Barcelona 08003, Spain
11. Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
12. Department of the Languages and Cultures of the Near and Middle East, Faculty of Languages and Cultures, School of Oriental and African Studies (SOAS), University of London, London WC1H 0XG, UK
13. ARL Division of Biotechnology, University of Arizona, Tucson, Arizona 85721, USA
14. These authors contributed equally to this work.

Correspondence to: Doron M. Behar^1,2,14 Email: behardm@usernet.com

Correspondence to: Karl Skorecki^1,5 Email: skorecki@tx.technion.ac.il

Correspondence to: Richard Villems² Email: rvillems@ebc.ee

Top of page

Abstract

Contemporary Jews comprise an aggregate of ethno-religious communities whose worldwide members identify with each other through various shared religious, historical and cultural traditions^{1, 2}. Historical evidence suggests common origins in the Middle East, followed by migrations leading to the establishment of communities of Jews in Europe, Africa and Asia, in what is termed the Jewish Diaspora^{3, 4, 5}. This complex demographic history imposes special challenges in attempting to address the genetic structure of the Jewish people⁶. Although many genetic studies have shed light on Jewish origins and on diseases prevalent among Jewish communities, including studies focusing on uniparentally and biparentally inherited markers^{7, 8, 9, 10, 11, 12, 13, 14, 15, 16}, genome-wide patterns of variation across the vast geographic span of Jewish Diaspora communities and their respective neighbours have yet to be addressed. Here we use high-density bead arrays to genotype individuals from 14 Jewish Diaspora communities and compare these patterns of genome-wide diversity with those from 69 Old World non-Jewish populations, of which 25 have not previously been reported. These samples were carefully chosen to provide comprehensive comparisons between Jewish and non-Jewish populations in the Diaspora, as well as with non-Jewish populations from the Middle East and north Africa. Principal component and structure-like analyses identify previously unrecognized genetic substructure within the Middle East. Most Jewish samples form a remarkably tight subcluster that overlies Druze and Cypriot samples but not samples from other Levantine populations or paired Diaspora host populations. In contrast, Ethiopian Jews (Beta Israel) and Indian Jews (Bene Israel and Cochini) cluster with neighbouring autochthonous populations in Ethiopia and western India, respectively, despite a clear paternal link between the Bene Israel and the Levant. These results cast light on the variegated genetic architecture of the Middle East, and trace the origins of most Jewish Diaspora communities to the Levant.