High-Resolution Eight-Digit Human Leukocyte Antigen-A, -B, -C, and -DRB1 Allele and Haplotype Frequencies in South...

Data on human leukocyte antigen (HLA) typing using modern high-resolution methods are increasingly needed. Previous HLA studies in Korea were limited by small sample sizes or low-resolution data. We analyzed high-resolution (eight-digit) HLA data obtained through next-generation sequencing from healthy volunteers from Korea registered for hematopoietic stem cell transplantation, providing a large-scale dataset for population-based genetic analysis.

We comprehensively analyzed HLA data from 2,726 volunteers from Korea. HLA-A, -B, -C, and -DRB1 alleles were identified using a GenDX NGSgo kit. Allele frequency (AF), haplotype frequency (HF), and equilibrium status were analyzed using the PyPop software. Principal component, Euclidean distance, and Nei's standard genetic distance analyses were performed using R software to compare data from Korea with that from other East Asian populations.

AF analysis identified 222 alleles (52 HLA-A, 70 HLA-B, 59 HLA-C, and 41 HLA-DRB1); HLA-A*24:02:01:01, HLA-B*15:01:01:01, HLA-C*01:02:01:01, and HLA-DRB1* 09:01:02:01 were the most common. HF analysis revealed 632 haplotypes in HLA class I, and 2,848 in combined classes I and II; HLA-A*33:03:01:01~B*44:03:01:0 1~C*14:03:01:01 and HLA-A*33:03:01:01~B*44:03:01:01~C*14:03:01:01~DRB1*13:02:01:02 were the most common. Principal component and Euclidean distance analyses revealed genetic similarities among the individuals from Korea, Japan, and China.

This study revealed key population genetic trends and relationships with East Asian neighbors, reflecting both shared and distinctive HLA characteristics. These data can provide valuable insights for anthropological and clinicopathological studies, as well as for understanding genetic diversity within the East Asian region.