Kulmann-Leal Bruna, Ellwanger Joel Henrique, Arend Ana Cristina, Jobim Luiz Fernando Job, Jobim Mariana, Michita Rafael Tomoya, Callegari-Jacques Sidia Maria, Pôrto Luís Cristóvão de Moraes Sobrino, Chies José Artur Bogo
Universidade Federal do Rio Grande do Sul (UFRGS), Departamento de Genética, Laboratório de Imunobiologia e Imunogenética, Porto Alegre, RS, Brazil.
Universidade Federal do Rio Grande do Sul (UFRGS), Departamento de Genética, Programa de Pós-Graduação em Genética e Biologia Molecular, Porto Alegre, RS, Brazil.
Genet Mol Biol. 2024 Jul 29;47(3):e20230198. doi: 10.1590/1678-4685-GMB-2023-0198. eCollection 2024.
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.
移植来自CCR5Δ32纯合基因型供体的干细胞是实现恶性血液病控制以及HIV感染持续缓解的一种潜在策略，不同国家的研究人员正在寻找CCR5Δ32纯合供体来复制这种“双靶点”策略。我们测定了来自巴西南里奥格兰德州的1398名骨髓供体样本中CCR5Δ32变体的频率。本研究还评估了在一个具有显著基因混合特征的人群中，HLA - A、HLA - B和HLA - DRB1基因型在CCR5Δ32携带者和非携带者之间是否均匀分布。CCR5Δ32等位基因频率为7.4%（95%置信区间6.4 - 8.4%），Δ32/Δ32纯合基因型频率为0.72%（95%置信区间0.34 - 1.31%）。总体而言，HLA基因型在CCR5Δ32携带者和非携带者之间均匀分布。考虑到巴西大量的骨髓供体以及我们研究中观察到的高CCR5Δ32等位基因频率，我们的结果清楚地表明巴西南部存在相当数量的潜在CCR5Δ32纯合骨髓供体，这表明积极寻找这些供体不仅可行，而且是控制和治疗HIV感染的一种有吸引力且前景广阔的策略。
