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利用NMDP墨西哥供者中心供者的9个基因座等位基因和单倍型频率分析墨西哥HLA系统的遗传多样性。

Profiling the genetic diversity of the HLA system in Mexico using 9-locus allele and haplotype frequencies from donors in the NMDP Mexico donor center.

作者信息

Madbouly Abeer, Bashyal Pradeep, Banos Andrea, Ramirez Jair, Whitaker Cameron, Fernandez-Vina Marcelo, Springer Brianna, Ybarra Yvonne, Maiers Martin, Bolon Yung-Tsi

机构信息

CIBMTR® (Center for International Blood and Marrow Transplant Research), NMDP, Minneapolis, MN, USA; NMDP, Minneapolis, MN, USA.

NMDP, Minneapolis, MN, USA.

出版信息

Hum Immunol. 2025 Jul;86(4):111324. doi: 10.1016/j.humimm.2025.111324. Epub 2025 May 6.

DOI:10.1016/j.humimm.2025.111324
PMID:40334347
Abstract

Profiling the HLA diversity at the population level benefits multiple clinical and anthropological applications, such as tracing population migration, identifying genetic relationships between different groups, quantifying the added diversity in a global donor pool and matching for solid organ and stem cell transplantation. We calculated nine-locus HLA-A ∼ C ∼ B ∼ DRB1 ∼ DRB3/4/5 ∼ DQA1 ∼ DQB1 ∼ DPA1 ∼ DPB1 allele and haplotype frequencies in about 170,000 volunteer donor genotypes from the NMDP Mexico (NMDP MX, previously Be The Match Mexico) donor center. These donors are predominantly of Mexican ancestry recruited from multiple regions in Mexico. The goal of the study was to describe the HLA genetic profiles of the Mexican population and investigate the contribution of these donors' HLA in serving Mexican, US and international patients in need of hematopoietic cell transplants. Additionally, we estimated that almost all Mexican patients will have an available 5 of 8 or better matched donor in the NMDP MX donor center with matches also available for some of the Latino patients in the U.S. We demonstrate that Mexican populations clustered genetically and shared multiple frequent alleles and haplotypes with populations from the US Mexican or Chicano, US South/Central American Hispanic, and some Latino populations. Operationally, 78 % of NMDP Mexico donors contributed genotypes that were observed a total of three times or less on the registry, increasing the diversity of the overall NMDP registry. More than 300 donor collections were facilitated through the NMDP MX donor center serving mostly Hispanic/Latino patients in the US and abroad. This study highlights the importance of adding the NMDP MX donors to the worldwide donor pool and paves the way for a data-driven strategy for future planning and donor recruitment.

摘要

在群体水平上分析人类白细胞抗原(HLA)多样性有利于多种临床和人类学应用,例如追踪群体迁移、识别不同群体之间的遗传关系、量化全球供体库中的附加多样性以及为实体器官和干细胞移植进行配型。我们计算了来自NMDP墨西哥(NMDP MX,前身为“成为匹配者墨西哥”)供体中心约170,000名志愿者供体基因型中的九位点HLA - A ∼ C ∼ B ∼ DRB1 ∼ DRB3/4/5 ∼ DQA1 ∼ DQB1 ∼ DPA1 ∼ DPB1等位基因和单倍型频率。这些供体主要是从墨西哥多个地区招募的具有墨西哥血统的人。该研究的目的是描述墨西哥人群的HLA遗传图谱,并调查这些供体的HLA在为有造血细胞移植需求的墨西哥、美国及国际患者提供服务方面的贡献。此外,我们估计几乎所有墨西哥患者在NMDP MX供体中心都能找到8个位点中5个或更好匹配的供体,美国的一些拉丁裔患者也能找到匹配供体。我们证明墨西哥人群在基因上聚类,并且与来自美国墨西哥裔或奇卡诺人、美国中南美洲西班牙裔以及一些拉丁裔人群共享多个常见等位基因和单倍型。在实际操作中,78%的NMDP墨西哥供体提供的基因型在登记册上总共只出现了三次或更少,增加了整个NMDP登记册的多样性。通过NMDP MX供体中心促成了300多次供体采集,主要服务于美国国内外的西班牙裔/拉丁裔患者。这项研究强调了将NMDP MX供体纳入全球供体库的重要性,并为未来规划和供体招募的数据驱动策略铺平了道路。

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