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中国汉族人群血液系统疾病与 HLA 易感性等位基因和基因型的研究。

Investigation of HLA susceptibility alleles and genotypes with hematological disease among Chinese Han population.

机构信息

Shenzhen Tissuebank Precision Medicine Co., Ltd, Shenzhen, China.

Shanghai Tissuebank Biotechnology Co., Ltd, Shanghai, China.

出版信息

PLoS One. 2024 Apr 9;19(4):e0281698. doi: 10.1371/journal.pone.0281698. eCollection 2024.

DOI:10.1371/journal.pone.0281698
PMID:38593173
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11003630/
Abstract

Several genes involved in the pathogenesis have been identified, with the human leukocyte antigen (HLA) system playing an essential role. However, the relationship between HLA and a cluster of hematological diseases has received little attention in China. Blood samples (n = 123913) from 43568 patients and 80345 individuals without known pathology were genotyped for HLA class I and II using sequencing-based typing. We discovered that HLA-A11:01, B40:01, C01:02, DQB103:01, and DRB109:01 were prevalent in China. Furthermore, three high-frequency alleles (DQB103:01, DQB106:02, and DRB115:01) were found to be hazardous in malignant hematologic diseases when compared to controls. In addition, for benign hematologic disorders, 7 high-frequency risk alleles (A01:01, B46:01, C01:02, DQB103:03, DQB105:02, DRB109:01, and DRB114:54) and 8 high-frequency susceptible genotypes (A11:01-A11:01, B46:01-B58:01, B46:01-B46:01, C01:02-C03:04, DQB103:01-DQB105:02, DQB103:03-DQB106:01, DRB109:01-DRB115:01, and DRB114:54-DRB1*15:01) were observed. To summarize, our findings indicate the association between HLA alleles/genotypes and a variety of hematological disorders, which is critical for disease surveillance.

摘要

已鉴定出一些与发病机制相关的基因，其中人类白细胞抗原（HLA）系统起着至关重要的作用。然而，HLA 与一组血液系统疾病之间的关系在中国尚未得到充分关注。我们使用基于测序的分型方法对来自 43568 名患者和 80345 名无已知病理个体的 123913 份血液样本进行了 HLA Ⅰ类和Ⅱ类基因分型。我们发现 HLA-A11:01、B40:01、C01:02、DQB103:01 和 DRB109:01 在中国人中较为常见。此外，与对照组相比，在恶性血液病中发现三个高频等位基因（DQB103:01、DQB106:02 和 DRB115:01）具有危害性。此外，对于良性血液疾病，有 7 个高频风险等位基因（A01:01、B46:01、C01:02、DQB103:03、DQB105:02、DRB109:01 和 DRB114:54）和 8 个高频易感基因型（A11:01-A11:01、B46:01-B58:01、B46:01-B46:01、C01:02-C03:04、DQB103:01-DQB105:02、DQB103:03-DQB106:01、DRB109:01-DRB115:01 和 DRB114:54-DRB1*15:01）被观察到。总之，我们的研究结果表明 HLA 等位基因/基因型与多种血液系统疾病之间存在关联，这对于疾病监测至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e17a/11003630/f1c35c643360/pone.0281698.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e17a/11003630/0bc7312b35ba/pone.0281698.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e17a/11003630/f1c35c643360/pone.0281698.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e17a/11003630/0bc7312b35ba/pone.0281698.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e17a/11003630/f1c35c643360/pone.0281698.g002.jpg

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本文引用的文献

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Association of HLA class II (-DRB1,-DQB1,-DPB1) alleles and haplotypes on susceptibility to aplastic anemia in northern Chinese Han.中国北方汉族人群中人类白细胞抗原Ⅱ类（-DRB1、-DQB1、-DPB1）等位基因及单倍型与再生障碍性贫血易感性的关联
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HLA Evolutionary Divergence as a Prognostic Marker for AML Patients Undergoing Allogeneic Stem Cell Transplantation.HLA进化差异作为接受异基因干细胞移植的急性髓系白血病患者的预后标志物
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