Abstract
The human leukocyte antigen (HLA) system comprises the most polymorphic genes of the human genome and is famous for its potential pathological roles. To accurately type HLA genes and find HLA-matched donors, which are critical for effective hematopoietic transplantation, HLA typing using next-generation sequencing (NGS) was implemented. We aimed to share the experience of HLA typing using NGS in patients with hematologic malignancies and evaluate its association with hematologic diseases. Data from 211 Korean, non-familial patients diagnosed with a hematologic disease were reviewed, and NGS was performed for 11 HLA loci. Three-field HLA typing with G code was successfully achieved for all loci and the known linkage between HLA-DRB3/4/5 and HLA-DRB1 was fully matched. Therefore, NGS-based HLA typing enables a detailed, high-resolution analysis of the HLA system that can help with the selection of suitable donors. Notably, HLA-DRB1*08:02:01G was significantly associated with myelodysplastic syndrome. Although this result confirms the tendency of some alleles to be associated with hematological disorders, this may not be the case in hematologic malignancies. Nonetheless, NGS-based HLA typing data for HLA-DP, HLA-DQ, and HLA-DRB3/4/5 are still warranted for a better understanding of the corresponding locus.