Abraham's Children in the Genome Era: Major Jewish Diaspora Populations Comprise Distinct Genetic Clusters with Shared Middle Eastern Ancestry

Gil Atzmon, Li Hao, Itsik Pe'er, Christopher Velez, Alexander Pearlman, Pier Francesco Palamara, Bernice Morrow, Eitan Friedman, Carole Oddoux, Edward Burns, Harry Ostrer

Research output: Contribution to journalArticlepeer-review

Abstract

For more than a century, Jews and non-Jews alike have tried to define the relatedness of contemporary Jewish people. Previous genetic studies of blood group and serum markers suggested that Jewish groups had Middle Eastern origin with greater genetic similarity between paired Jewish populations. However, these and successor studies of monoallelic Y chromosomal and mitochondrial genetic markers did not resolve the issues of within and between-group Jewish genetic identity. Here, genome-wide analysis of seven Jewish groups (Iranian, Iraqi, Syrian, Italian, Turkish, Greek, and Ashkenazi) and comparison with non-Jewish groups demonstrated distinctive Jewish population clusters, each with shared Middle Eastern ancestry, proximity to contemporary Middle Eastern populations, and variable degrees of European and North African admixture. Two major groups were identified by principal component, phylogenetic, and identity by descent (IBD) analysis: Middle Eastern Jews and European/Syrian Jews. The IBD segment sharing and the proximity of European Jews to each other and to southern European populations suggested similar origins for European Jewry and refuted large-scale genetic contributions of Central and Eastern European and Slavic populations to the formation of Ashkenazi Jewry. Rapid decay of IBD in Ashkenazi Jewish genomes was consistent with a severe bottleneck followed by large expansion, such as occurred with the so-called demographic miracle of population expansion from 50,000 people at the beginning of the 15th century to 5,000,000 people at the beginning of the 19th century. Thus, this study demonstrates that European/Syrian and Middle Eastern Jews represent a series of geographical isolates or clusters woven together by shared IBD genetic threads.

Original languageEnglish
Pages (from-to)850-859
Number of pages10
JournalAmerican Journal of Human Genetics
Volume86
Issue number6
DOIs
StatePublished - 11 Jul 2010
Externally publishedYes

Bibliographical note

Funding Information:
This study was supported, in part, by the Lewis and Rachel Rudin Foundation, the Iranian-American Jewish Federation of New York, the U.S.-Israel Binational Science Foundation, the US National Institutes of Health (5 U54 CA121852), and Ruth and Sidney Lapidus. The authors thank Alon Keinan, Alkes Price, Yongzhao Shao, Carlos Bustamante, and David Goldstein for useful technical discussions; Lanchi U, Malka Sasson, Bridget Riley, Christopher Campbell, Jidong Shan, David Reynolds, Michael Bamshad, Nora Iny, Robert Ohebshalom, Lana Bahhash, Rabbi Salomon Cohen-Scali, Ino Angel, and Avram Fortis for technical contributions; and Lawrence Schiffman, Robert Chazen, Aron Rodrigue, and Harvey Goldberg for informative historical discussions.

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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