Genetics and Molecular Biology (Jul 2024)

CCR5Δ32 and HLA allele diversity in bone marrow donors from southern Brazil

  • Bruna Kulmann-Leal,
  • Joel Henrique Ellwanger,
  • Ana Cristina Arend,
  • Luiz Fernando Job Jobim,
  • Mariana Jobim,
  • Rafael Tomoya Michita,
  • Sidia Maria Callegari-Jacques,
  • Luís Cristóvão de Moraes Sobrino Pôrto,
  • José Artur Bogo Chies

DOI
https://doi.org/10.1590/1678-4685-gmb-2023-0198
Journal volume & issue
Vol. 47, no. 3

Abstract

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Abstract Transplantation of stem cells derived from donors with CCR5Δ32 homozygous genotype is a potential strategy to achieve both the control of malignant hematological disease as well as sustained remission of the HIV infection, and researchers in different countries are looking for CCR5Δ32 homozygous donors to replicate such a ‘double-target’ strategy. We determined the frequency of the CCR5Δ32 variant in a sample of 1,398 bone marrow donors from Rio Grande do Sul State, Brazil. This study also evaluated whether HLA-A, HLA-B and HLA-DRB1 genotypes are homogeneously distributed between CCR5Δ32 carriers and non-carriers in a population characterized by a significant genetic admixture. The CCR5Δ32 allele frequency was 7.4% (CI0.95 6.4-8.4%), and the frequency of the Δ32/Δ32 homozygous genotype was 0.72% (CI0.95 0.34-1.31%). In general, HLA genotypes are homogeneously distributed between CCR5Δ32 carriers and non-carriers. Considering the large number of bone marrow donors in Brazil and the high CCR5Δ32 allele frequency observed in our study, our results clearly indicate the existence of a considerable amount of potential CCR5Δ32 homozygous bone marrow donors in southern Brazil, suggesting that an active search for these donors is not only feasible but an attractive and promising strategy towards effective HIV infection control and treatment.

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