Abraham’s Children in the Genome Era:

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Jews originated as a national and religious group in the Middle East during the second millennium BCE¹ and have maintained continuous genetic, cultural, and religious traditions since that time, despite a series of Diasporas.² Middle Eastern (Iranian and Iraqi) Jews date from communities that were formed in the Babylon and Persian Empires in the fourth to sixth centuries BCE.^3,4 Jewish communities in the Balkans, Italy, North Africa, and Syria were formed during classical antiquity and then admixed with Sephardic Jews who migrated after their expulsion from the Iberian Peninsula in the late 15^th century.⁵ Ashkenazi Jews are thought to have settled in the Rhine Valley during the first millennium of the Common Era, then to have migrated into Eastern Europe between the 11^th and 15^th centuries, although alternative theories involving descent from Sorbs (Slavic speakers in Germany) and Khazars have also been proposed.^6,7 Admixture with surrounding populations had an early role in shaping world Jewry, but, during the past 2000 years, may have been limited by religious law as Judaism evolved from a proselytizing to an inward-looking religion.⁸

Earlier genetic studies on blood groups and serum markers suggested that Jewish Diaspora populations had Middle Eastern origin, with greater genetic similarity between paired Jewish populations than with non-Jewish populations.^9–11 These studies differed in their interpretation of the degree of admixture with local populations. Recent studies of Y chromosomal and mitochondrial DNA haplotypes have pointed to founder effects of both Middle Eastern and local origin, yet the issue of how to characterize Jewish people as mere coreligionists or as genetic isolates that may be closely or loosely related remains unresolved.^12–16 To improve the understanding about the relatedness of contemporary Jewish groups, genome-wide analysis and comparison with neighboring populations was performed for representatives of three major groups of the Jewish Diaspora: Eastern European Ashkenazim; Italian, Greek, and Turkish Sephardim; and Iranian, Iraqi, and Syrian Mizrahim (Middle Easterners).