Common, Intermediate and Well-Documented HLA Alleles in the Brazilian Population: An Analysis of the Brazilian Bone Marrow Donor Registry (REDOME)

IF 4.1 4区 医学 Q2 CELL BIOLOGY HLA Pub Date : 2025-02-11 DOI:10.1111/tan.70051
Jose Samuel da Silva, Jeane Eliete Laguila Visentainer, Raquel Aparecida Fabreti-Oliveira, Felipe Carlos Brito de Souza, Marcio Nogueira Pereira Silva, Alexandre da Costa Sena, Monica Goldenstein, Renata Esterque Claudino, Patricia Jeanne de Souza Mendonça-Mattos, Juliana Pessanha Rodrigues Motta, Danielle Angst Secco, Danielli Oliveira, Luís Cristóvão Porto
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Abstract

This study investigates the HLA allele diversity in Brazil, a reflection of the country's unique history of population admixture. The international comparison of findings emphasises the importance of incorporating underrepresented populations into global HLA databases. We present a comprehensive analysis of HLA alleles within the Brazilian population, utilising high-resolution sequencing data from 298,000 unrelated haematopoietic stem cell volunteer donors registered with the Brazilian Bone Marrow Donor Registry (REDOME). Our research encompasses donors from all regions of Brazil, identifying HLA alleles that are catalogued as common, intermediate or well-documented (CIWD Version 3.0). We evaluated the alleles of HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DQA1, HLA-DQB1, HLA-DPA1 and HLA-DPB1. At a two-field resolution, we identified 1969 alleles: 418 were classified as common, 358 as intermediate and 1193 as non-CIWD in Brazil. Notably, we report HLA alleles that, while not classified as common or intermediate in the CIWD 3.0 catalogue, are prevalent within the Brazilian population. A detailed list of alleles from the registry, presented at a two-field resolution and supplemented with grouped ARD levels, including three- or four-field resolution when available, serves as an essential reference for HLA typing frequencies specific to the Brazilian population.

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巴西人群中常见、中间和有充分证据的HLA等位基因:巴西骨髓供者登记(REDOME)的分析
本研究调查了巴西的HLA等位基因多样性,反映了该国独特的人口混合历史。研究结果的国际比较强调了将代表性不足的人群纳入全球HLA数据库的重要性。我们对巴西人群中的HLA等位基因进行了全面分析,利用在巴西骨髓捐赠者登记处(REDOME)注册的298,000名非亲属造血干细胞志愿者的高分辨率测序数据。我们的研究涵盖了来自巴西所有地区的供体,确定了被分类为常见、中间或有充分记录的HLA等位基因(CIWD 3.0版)。我们评估了HLA-A、HLA-B、HLA-C、HLA-DRB1、HLA-DQA1、HLA-DQB1、HLA-DPA1和HLA-DPB1的等位基因。在两个领域的分辨率,我们确定了1969个等位基因:418个被归类为常见,358个被归类为中间,1193个被归类为巴西的非ciwd。值得注意的是,我们报告了HLA等位基因,虽然在CIWD 3.0目录中未被归类为普通或中间,但在巴西人群中普遍存在。来自登记处的详细等位基因列表,以两场分辨率呈现,并辅以分组ARD水平,包括三场或四场分辨率(如果有的话),作为巴西人群特异性HLA分型频率的重要参考。
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来源期刊
HLA
HLA Immunology and Microbiology-Immunology
CiteScore
3.00
自引率
28.80%
发文量
368
期刊介绍: HLA, the journal, publishes articles on various aspects of immunogenetics. These include the immunogenetics of cell surface antigens, the ontogeny and phylogeny of the immune system, the immunogenetics of cell interactions, the functional aspects of cell surface molecules and their natural ligands, and the role of tissue antigens in immune reactions. Additionally, the journal covers experimental and clinical transplantation, the relationships between normal tissue antigens and tumor-associated antigens, the genetic control of immune response and disease susceptibility, and the biochemistry and molecular biology of alloantigens and leukocyte differentiation. Manuscripts on molecules expressed on lymphoid cells, myeloid cells, platelets, and non-lineage-restricted antigens are welcomed. Lastly, the journal focuses on the immunogenetics of histocompatibility antigens in both humans and experimental animals, including their tissue distribution, regulation, and expression in normal and malignant cells, as well as the use of antigens as markers for disease.
期刊最新文献
Nomenclature for Factors of the HLA System, 2026. Identification of the Novel HLA-B Allele, HLA-B*37:122, in an Individual From Western India. Characterisation of the Novel HLA-B*18:264 Allele by Sequencing-Based Typing. Characterisation of the Novel HLA-B*35:02:25 Allele by Sequencing-Based Typing. Confirmation of the HLA-DPA1*01:03:59 Allele by Sequencing-Based Typing.
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