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

Abstract

Background: Serveral genes involved in the pathogenesis have been identified and a crucial role is known to be played by the human leukocyte antigen (HLA) system. However, the relationship between HLA and a cluster of hematological diseases has been rarely reported in China.Methods: Blood samples (n=123,913) from 43,568 patients and 80,345 individuals without known pathology were genotyped using sequence-based typing (SBT) for HLA class I and II.Results: The HLA-A*11:01, B*40:01, C*01:02, DQB1*03:01, and DRB1*09:01 were common in China. Additionally, compared to controls, in malignant hematologic diseases, 3 high-frequency alleles (DQB1*03:01, DQB1*06:02, and DRB1*15:01) were risky. And we observed 7 high-frequency risk alleles (A*01:01, B*46:01, C*01:02, DQB1*03:03, DQB1*05:02, DRB1*09:01, and DRB1*14:54) and 8 high-frequency susceptible genotypes (A*11:01-A*11:01, B*46:01-B*58:01, B*46:01-B*46:01, C*01:02-C*03:04, DQB1*03:01-DQB1*05:02, DQB1*03:03-DQB1*06:01, DRB1*09:01-DRB1*15:01, and DRB1*14:54-DRB1*15:01) for benign hematologic diseases. Conclusion: Our results support the association between HLA alleles/genotypes and multiple hematological disorders, which is essential in disease surveillance.

Competing Interest Statement

The authors have declared no competing interest.

Funding Statement

The authors received no specific funding for this work.

Author Declarations

I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.

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The details of the IRB/oversight body that provided approval or exemption for the research described are given below:

This study protocol was reviewed and approved by the ethics committee of the Shanghai Tissuebank Medical Laboratory, approval number 2020-006.

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Data Availability

All relevant data are within the manuscript and its Supporting Information files

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