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.