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A Comprehensive Analysis of HLA-A and HLA-DR Allele Frequencies and Haplotype Associations in a Korean Population of 790 Individuals
Korean J Clin Lab Sci 2024;56:236-247  
Published on September 30, 2024
Copyright © 2024 Korean Society for Clinical Laboratory Science.

Hee-Kyung HAN1 , Mi Hyun KIM1 , Seong Su JEONG1 , Dong Kwon KIM1,2 , Youngtaek KIM1 , Joon Yeon HWANG1 , Seong-san KANG1 , Seung Min YANG1 , Seul LEE1,2 , Sujeong BAEK1 , Kwangmin NA1 , Chai Young LEE1 , Yu Jin HAN1 , So Young PARK1 , Min Hee HONG3 , Jii Bum LEE3 , Sun Min LIM3 , Jae-Hwan KIM1 , Kyoung-Ho PYO1,3,4 , Byoung Chul CHO3,4

1Department of Medical Sciences, Yonsei University College of Medicine, Seoul, Korea
2Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea
3Division of Medical Oncology, Department of Internal Medicine and Yonsei Cancer Center, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea
4Yonsei New Il Han Institute for Integrative Lung Cancer Research, Yonsei University College of Medicine, Seoul, Korea
Correspondence to: Byoung Chul CHO
Yonsei Cancer Center, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, Korea
E-mail: CBC1971@yuhs.ac
ORCID: https://orcid.org/0000-0002-5562-270X
†The first two authors contributed equally to this work.
#The last two authors contributed equally as corresponding authors.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
The human leukocyte antigen (HLA) system, which is part of the major histocompatibility complex (MHC) plays a vital role in immune responses by differentiating between itself and foreign cells and antigens. The significant diversity of alleles affects disease susceptibility and immune responses within different populations. Specifically, the HLA-A and HLA-DRB1 alleles are associated with various immune-related diseases, and understanding the frequency and haplotype associations of these alleles is vital for genetic and immunological research. To investigate the distribution of these characteristics in Koreans, we isolated peripheral blood mononuclear cells (PBMCs) from blood samples donated by volunteers at the Seoul Central Blood Bank and performed HLA typing on 790 samples. Our study found that the HLA-A and HLA-DRB1 alleles are widely distributed within the Korean population, with HLA-A*24:02 (21.7%) and HLA-DRB1*09:01 (9.9%) being the most frequent. Significant haplotype associations between specific HLA-A and HLA-DRB1 alleles were identified using the Chi-square test, suggesting that certain genetic combinations may influence disease onset. This insight could contribute to the development of predictive and preventative strategies for various diseases. The unique genetic characteristics of the Korean population highlight the importance of studying the HLA allele and the haplotype distributions in this group as key indicators for understanding disease susceptibility.
Keywords : Alleles, Genetic predisposition to disease, HLA antigens, Immunogenetics, Korea

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