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Evidence for recent selection of the CCR5-Δ32 deletion from differences in its frequency between Ashkenazi and Sephardi Jews

Abstract

Recent studies have shown higher frequencies of the CCR5-Δ32 allele and the CCR5-Δ32/Δ32 genotype, which confers protection against HIV infection, in northern Europe as compared to Mediterranean countries. Here, we analyse the prevalence of CCR5-Δ32 in 922 HIV seronegative blood donors in Israel to verify its frequency in Jews of Ashkenazi and Sephardi origin. A significant difference (P < 0.001) was found between the ccr5-δ32 allele frequency in ashkenazi (13.8%) vs (4.9%) jews. in contrast, no significant difference was observed in the frequency of the ccr2–64i mutation between ashkenazi (9.2%) and sephardi (13.4%) jews. using the island model we calculate that a minimal genetic migration rate of 3% per generation would have been necessary if the higher ccr5-δ32 prevalence in ashkenazi is to be fully explained by mixing with the indigenous north-european populations. this putative migration rate is 20-fold higher than that currently estimated from other genes, and would correspond to a non-realistic minimal current admixture of 80%. thus, our results suggest that a positive selection process for ccr5-δ32 should have occurred in northern europe at most a 1000 years ago, after the ashkenazi jews separated from their sephardi kin and moved to north europe.

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Correspondence to AU Neumann.

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This work was supported by the committee for the advancement of research and the Gonda-Goldschmied Medical Diagnostic Center at the Bar-Ilan University; and the National Institutes of Health under RO1 AI 43868 (LGK).

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Maayan, S., Zhang, L., Shinar, E. et al. Evidence for recent selection of the CCR5-Δ32 deletion from differences in its frequency between Ashkenazi and Sephardi Jews. Genes Immun 1, 358–361 (2000). https://doi.org/10.1038/sj.gene.6363690

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Keywords

  • HIV-1 co-receptors
  • CCR5-Δ32 mutation
  • CCR2–64I mutation
  • genetic polymorphism
  • population genetics
  • mathematical modeling

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