High-resolution inference of genetic relationships among Jewish populations

Naama M. Kopelman, Lewi Stone, Dena G. Hernandez, Dov Gefel, Andrew B. Singleton, Evelyne Heyer, Marcus W. Feldman, Jossi Hillel, Noah A. Rosenberg*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Recent studies have used genome-wide single-nucleotide polymorphisms (SNPs) to investigate relationships among various Jewish populations and their non-Jewish historical neighbors, often focusing on small subsets of populations from a limited geographic range or relatively small samples within populations. Here, building on the significant progress that has emerged from genomic SNP studies in the placement of Jewish populations in relation to non-Jewish populations, we focus on population structure among Jewish populations. In particular, we examine Jewish population-genetic structure in samples that span much of the historical range of Jewish populations in Europe, the Middle East, North Africa, and South Asia. Combining 429 newly genotyped samples from 29 Jewish and 3 non-Jewish populations with previously reported genotypes on Jewish and non-Jewish populations, we investigate variation in 2789 individuals from 114 populations at 486,592 genome-wide autosomal SNPs. Using multidimensional scaling analysis, unsupervised model-based clustering, and population trees, we find that, genetically, most Jewish samples fall into four major clusters that largely represent four culturally defined groupings, namely the Ashkenazi, Mizrahi, North African, and Sephardi subdivisions of the Jewish population. We detect high-resolution population structure, including separation of the Ashkenazi and Sephardi groups and distinctions among populations within the Mizrahi and North African groups. Our results refine knowledge of Jewish population-genetic structure and contribute to a growing understanding of the distinctive genetic ancestry evident in closely related but historically separate Jewish communities.

Original languageEnglish
Pages (from-to)804-814
Number of pages11
JournalEuropean Journal of Human Genetics
Issue number6
StatePublished - 1 Jun 2020


FundersFunder number
University of Michigan Life Sciences Institute/Israeli Universities Partnership


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