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Chung, Yoon, Han, Song, and Park: Allelic and Haplotypic Diversity of HLA-A, -B, -C, and -DRB1 Genes in Koreans Defined by High-resolution DNA Typing
Original Article

Korean J Leg Med 2010;30(6):685-696.

Published online: 14 January 2010

DOI: https://doi.org/10.3343/kjlm.2010.30.6.685

Allelic and Haplotypic Diversity of HLA-A, -B, -C, and -DRB1 Genes in Koreans Defined by High-resolution DNA Typing

Hye Yoon Chung, M.D., Jung Ah Yoon, M.S., Bok Youn Han, M.T., Eun Yung Song, M.D., Myoung Hee Park, M.D.

Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea

Corresponding author: Myoung Hee Park, M.D. Department of Laboratory Medicine, Seoul National University College of Medicine, 101 Daehang-no, Jongno-gu, Seoul 110-744, Korea Tel: +82-2-2072-3388, Fax: +82-2-3672-3337 E-mail: parkmhee@snu.ac.kr

      Revised 9 July 201014 October 2010       Accepted 5 November 2010

Copyright © 2010 Korean Society for Legal Medicine

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Background:

In this study, we used high-resolution DNA typing to investigate the distribution of HLA alleles and haplotypes in Koreans.

Methods:

HLA-A, -B, -C, and -DRB1 alleles were genotyped at the allelic (4-digit) level in 474 healthy Koreans. HLA genotyping was performed in two steps. Initially, serologic typing or generic-level DNA typing was performed using the PCR-sequence-specific oligonucleotide method, and then allelic DNA typing (exons 2 and 3 for class I, and exon 2 for DRB1) was carried out using the PCR-single-strand conformation polymorphism method or sequence-based typing. HLA allele and haplotype frequencies and linkage disequilibrium values were calculated by the maximum likelihood method using a computer program developed for the 11th International Histocompatibility Workshop.

Results:

A total of 21 HLA-A, 40 HLA-B, 22 HLA-C, and 29 HLA-DRB1 alleles were found in Koreans. The most frequent alleles in each locus with frequencies of ≥10% were, in decreasing order of frequency, as follows: A∗24:02, A∗02:01, A∗33:03; B∗51:01; C∗01:02, C∗03:03; and DRB1∗09:01. The numbers of two- and three-locus haplotypes with frequencies of >0.5% were as follows: 44 A-C, 42 B-C, 51 A-B, 52 B-DRB1, 42 A-C-B, and 34 A-B-DRB1. Thirteen A-B-DRB1 haplotypes with frequencies of ≥1.0% comprised 26.0% of the total haplotypes. The six most common haplotypes were as follows: A∗33:03-B∗44:03-DRB1∗13:02 (3.7%), A∗33:03-B∗44:03-DRB1∗07:01 (3.0%), A∗33:03-B∗58:01-DRB1∗13:02 (3.0%), A∗24:02-B∗07:02-DRB1∗01:01 (2.8%), A∗30:01-B∗13:02-DRB1∗07:01 (2.3%), and A∗11:01-B∗15:01-DRB1∗04:06 (2.2%).

Conclusions:

The information obtained in this study can be used as basic data for Koreans in the fields of organ transplantation, disease association, and anthropologic studies.

Keywords: HLA, Allele, Haplotype, DNA typing, Korean

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Table 1.
HLA gene frequencies in Koreans (N=474)
HLA-A∗ GF (%) HLA-B∗ GF (%) HLA-C∗ GF (%) HLA-DRB1∗ GF (%)
A∗01:01 2.1 B∗07:02 4.1 C∗01:02 17.4 DRB1∗01:01 7.4
A∗02:01 16.5 B∗07:05 0.5 C∗01:03 0.9 DRB1∗03:01 2.2
A∗02:03 0.5 B∗08:01 0.1 C∗02:02 0.6 DRB1∗04:01 0.4
A∗02:06 9.5 B∗13:01 1.6 C∗03:02 6.3 DRB1∗04:03 2.6
A∗02:07 3.5 B∗13:02 3.8 C∗03:03 10.9 DRB1∗04:04 0.9
A∗02:10 0.1 B∗14:01 1.2 C∗03:04 9.9 DRB1∗04:05 8.5
A∗02:41 0.1 B∗15:01 9.4 C∗04:01 6.0 DRB1∗04:06 5.3
A∗03:01 1.6 B∗15:02 0.4 C∗04:03 0.1 DRB1∗04:07 0.3
A∗11:01 9.5 B∗15:07 1.1 C∗05:01 1.5 DRB1∗04:10 0.8
A∗24:02 22.9 B∗15:11 2.1 C∗06:02 5.7 DRB1∗07:01 7.3
A∗24:03 0.1 B∗15:18 1.3 C∗07:01 3.3 DRB1∗08:02 3.2
A∗26:01 3.8 B∗15:27 0.1 C∗07:02 7.2 DRB1∗08:03 7.2
A∗26:02 2.2 B∗27:04 0.1 C∗07:04 0.5 DRB1∗09:01 10.4
A∗26:03 1.1 B∗27:05 3.6 C∗08:01 8.5 DRB1∗10:01 1.5
A∗29:01 0.5 B∗35:01 5.8 C∗08:02 1.2 DRB1∗11:01 3.2
A∗30:01 3.8 B∗35:03 0.4 C∗08:03 0.6 DRB1∗12:01 5.1
A∗30:04 1.2 B∗37:01 1.3 C∗12:02 2.3 DRB1∗12:02 3.6
A∗31:01 4.5 B∗38:02 0.9 C∗12:03 0.3 DRB1∗13:01 1.9
A∗32:01 0.6 B∗39:01 1.2 C∗14:02 7.9 DRB1∗13:02 7.8
A∗33:03 15.4 B∗40:01 4.3 C∗14:03 5.0 DRB1∗14:02 0.2
A∗68:01 0.1 B∗40:02 5.1 C∗15:02 3.4 DRB1∗14:03 1.2
A blank 0.4 B∗40:03 0.5 C∗15:05 0.4 DRB1∗14:05 3.7
    B∗40:06 3.2 C blank 0.0 DRB1∗14:06 0.2
    B∗44:02 1.3     DRB1∗14:07 0.2
    B∗44:03 8.1     DRB1∗14:12 0.1
    B∗46:01 5.1     DRB1∗14:54 3.3
    B∗47:01 0.1     DRB1∗15:01 8.0
    B∗48:01 3.4     DRB1∗15:02 3.0
    B∗51:01 10.2     DRB1∗16:02 0.5
    B∗51:02 0.9     DRB1 blank 0.1
    B∗52:01 2.3        
    B∗54:01 5.4        
    B∗55:02 1.8        
    B∗55:04 0.2        
    B∗56:01 0.2        
    B∗56:05 0.1        
    B∗57:01 0.5        
    B∗58:01 5.7        
    B∗59:01 1.7        
    B∗67:01 0.3        
    B blank 0.5        

∗ HLA molecular typing was performed for the exons encoding the peptide-binding domains: exons 2 and 3 for HLA class I and exon 2 for HLA-DRB1 alleles. Listed HLA alleles are the most probable alleles in Koreans selected from particular groups of alleles designated with the suffix “G” in the 2010 HLA nomenclature [2]. For example, A∗02:06, B∗40:01, C∗01:02, and DRB1∗14:54 were selected from A∗02:06:01G (A∗02:06:01/02:126), B∗40:01:01G (B∗40:01:01/40:01:02/40:55), C∗01:02:01G (C∗01:02:01/01:02:02/01:25), and DRB1∗14:01:01G (DRB1∗14:01:01/14:54), respectively.

Abbreviations: GF, gene frequency.

Table 2.
Two-locus HLA haplotypes (A-C and B-C) in Koreans (N=474)
A-C haplotype∗   HF (%) LD RLD† χ2 B-C haplotype∗   HF (%) LD RLD† χ2
A∗01:01 C∗06:02 1.26 1.14 0.57 110.9 B∗07:02 C∗07:02 3.90 3.61 0.94 469.8
A∗02:01 C∗01:02 4.87 2.08 0.15 19.9 B∗13:01 C∗03:04 1.48 1.32 0.93 118.6
A∗02:01 C∗03:03 2.20 0.41 0.05 1.2 B∗13:02 C∗06:02 3.80 3.58 1.01 623.7
A∗02:01 C∗03:04 2.86 1.22 0.15 11.5 B∗14:01 C∗08:02 1.16 1.15 1.00 948.0
A∗02:01 C∗07:02 1.13 -0.10 -0.05 0.0 B∗15:01 C∗01:02 0.87 -0.77 -0.47 4.6
A∗02:01 C∗08:01 2.22 0.81 0.11 5.7 B∗15:01 C∗03:03 2.54 1.52 0.18 26.4
A∗02:01 C∗14:02 1.37 0.06 0.01 0.0 B∗15:01 C∗03:04 0.51 -0.42 -0.45 2.2
A∗02:01 C∗15:02 1.13 0.57 0.18 7.0 B∗15:01 C∗04:01 4.80 4.23 0.78 351.8
A∗02:03 C∗07:02 0.53 0.49 1.00 65.0 B∗15:07 C∗03:03 0.95 0.84 0.89 65.4
A∗02:06 C∗01:02 1.73 0.08 0.01 0.1 B∗15:11 C∗03:03 1.90 1.67 0.90 134.5
A∗02:06 C∗03:03 1.60 0.57 0.07 3.8 B∗15:18 C∗07:04 0.53 0.52 1.00 392.1
A∗02:06 C∗03:04 0.85 -0.09 -0.16 0.1 B∗15:18 C∗08:01 0.62 0.51 0.44 25.1
A∗02:06 C∗08:01 2.45 1.64 0.21 38.0 B∗27:05 C∗01:02 3.06 2.43 0.81 110.5
A∗02:06 C∗14:02 1.17 0.42 0.06 2.7 B∗27:05 C∗02:02 0.63 0.61 1.00 159.7
A∗02:07 C∗01:02 2.57 1.97 0.68 76.0 B∗35:01 C∗03:03 3.55 2.92 0.57 153.6
A∗03:01 C∗05:01 0.74 0.72 0.49 213.9 B∗35:01 C∗04:01 0.55 0.20 0.04 1.2
A∗11:01 C∗01:02 1.22 -0.44 -0.26 1.5 B∗35:01 C∗08:01 1.28 0.79 0.15 13.8
A∗11:01 C∗03:04 0.70 -0.24 -0.26 0.7 B∗37:01 C∗06:02 1.27 1.19 1.00 201.2
A∗11:01 C∗04:01 3.15 2.58 0.47 129.4 B∗38:02 C∗07:02 0.95 0.88 1.00 117.6
A∗11:01 C∗07:02 0.91 0.23 0.03 0.8 B∗39:01 C∗07:02 0.95 0.87 0.80 92.9
A∗11:01 C∗08:01 1.20 0.39 0.05 2.1 B∗40:01 C∗03:04 2.52 2.09 0.54 112.4
A∗24:02 C∗01:02 4.36 0.37 0.03 0.5 B∗40:02 C∗03:03 0.95 0.40 0.09 3.2
A∗24:02 C∗03:03 2.87 0.38 0.05 0.8 B∗40:02 C∗03:04 3.80 3.29 0.72 239.6
A∗24:02 C∗03:04 2.78 0.50 0.07 1.5 B∗40:03 C∗03:04 0.53 0.48 1.00 45.7
A∗24:02 C∗04:01 1.73 0.36 0.08 1.2 B∗40:06 C∗08:01 2.83 2.55 0.86 251.0
A∗24:02 C∗07:02 3.20 1.56 0.28 19.6 B∗44:02 C∗05:01 1.37 1.35 1.04 911.5
A∗24:02 C∗08:01 1.80 -0.16 -0.08 0.2 B∗44:03 C∗07:01 3.17 2.90 0.96 339.2
A∗24:02 C∗12:02 2.00 1.47 0.82 51.3 B∗44:03 C∗14:03 4.85 4.44 0.98 534.8
A∗24:02 C∗14:02 2.99 1.18 0.19 10.2 B∗46:01 C∗01:02 3.90 3.02 0.72 125.2
A∗26:01 C∗01:02 1.06 0.40 0.14 3.3 B∗46:01 C∗01:03 0.84 0.80 0.88 132.8
A∗26:01 C∗03:03 0.88 0.47 0.14 6.0 B∗48:01 C∗08:01 2.10 1.82 0.59 122.7
A∗26:01 C∗03:04 0.57 0.19 0.06 1.1 B∗48:01 C∗08:03 0.63 0.61 1.00 172.8
A∗26:02 C∗03:04 0.66 0.44 0.22 9.6 B∗51:01 C∗03:02 0.53 -0.12 -0.18 0.2
A∗26:03 C∗03:03 0.68 0.56 0.60 29.8 B∗51:01 C∗14:02 7.70 6.90 0.97 678.6
A∗30:01 C∗06:02 3.25 3.04 0.85 448.0 B∗51:01 C∗15:02 1.26 0.92 0.30 26.8
A∗30:04 C∗08:02 1.16 1.15 1.00 948.0 B∗51:02 C∗15:02 0.95 0.92 0.90 260.1
A∗31:01 C∗03:03 1.26 0.77 0.19 13.5 B∗52:01 C∗12:02 2.32 2.27 1.00 948.0
A∗31:01 C∗03:04 0.66 0.21 0.05 1.1 B∗54:01 C∗01:02 5.27 4.33 0.96 240.5
A∗31:01 C∗14:02 1.13 0.77 0.19 17.8 B∗55:02 C∗01:02 1.48 1.17 0.81 52.5
A∗33:03 C∗01:02 0.60 -2.09 -0.78 22.0 B∗57:01 C∗06:02 0.53 0.50 1.00 83.2
A∗33:03 C∗03:02 6.11 5.14 0.96 323.7 B∗58:01 C∗03:02 5.70 5.33 0.99 841.4
A∗33:03 C∗07:01 3.06 2.55 0.92 149.8 B∗59:01 C∗01:02 1.69 1.39 1.00 77.2
A∗33:03 C∗07:02. 0.52 -0.58 -0.53 3.7            
A∗33:03 C∗14:03 4.20 3.44 0.82 182.5            

∗ Haplotypes with frequencies of >0.5% are listed. Haplotypes showing strong positive linkage disequilibrium (chi-square>10.8; P<0.001) are underlined and those with RLD values of ≥0.7 are in bold;

† RLD values of ≥0.7 are in bold.

Abbreviations: HF, haplotype frequency; LD, linkage disequilibrium; RLD, relative linkage disequilibrium

Table 3.
Two-locus HLA haplotypes (A-B and B-DR) in Koreans (N=474)
A-B haplotype∗   HF (%) LD RLD† χ2 B-DR haplotype∗   HF (%) LD RLD† χ2
A∗01:01 B∗37:01 0.95 0.92 0.74 312.7 B∗07:02 DRB1∗01:01 3.58 3.28 0.86 378.2
A∗02:01 B∗13:01 0.73 0.47 0.36 9.7 B∗07:05 DRB1∗08:03 0.53 0.49 1.00 65.1
A∗02:01 B∗15:01 2.15 0.59 0.08 2.8 B∗13:01 DRB1∗12:02 1.58 1.53 1.00 409.7
A∗02:01 B∗15:11 0.56 0.22 0.13 1.7 B∗13:02 DRB1∗07:01 2.74 2.46 0.70 234.8
A∗02:01 B∗27:05 1.49 0.89 0.29 15.5 B∗14:01 DRB1∗08:02 0.53 0.49 0.44 65.1
A∗02:01 B∗35:01 1.12 0.17 0.03 0.3 B∗15:01 DRB1∗04:06 3.70 3.20 0.67 228.1
A∗02:01 B∗40:01 0.81 0.10 0.03 0.2 B∗15:01 DRB1∗09:01 1.42 0.44 0.05 2.3
A∗02:01 B∗40:02 1.55 0.71 0.17 7.3 B∗15:01 DRB1∗14:54 0.54 0.23 0.08 1.8
A∗02:01 B∗40:06 0.60 0.07 0.03 0.1 B∗15:01 DRB1∗15:01 1.44 0.69 0.09 7.1
A∗02:01 B∗48:01 0.83 0.28 0.10 1.6 B∗15:07 DRB1∗04:03 0.52 0.49 0.47 83.9
A∗02:01 B∗51:01 1.61 -0.07 -0.04 0.0 B∗27:05 DRB1∗01:01 2.58 2.31 0.68 210.5
A∗02:01 B∗54:01 1.46 0.57 0.13 4.3 B∗35:01 DRB1∗04:03 0.54 0.38 0.15 9.9
A∗02:03 B∗38:02 0.53 0.52 1.00 524.4 B∗35:01 DRB1∗09:01 0.92 0.31 0.06 1.8
A∗02:06 B∗27:05 0.75 0.41 0.12 5.2 B∗35:01 DRB1∗11:01 0.88 0.70 0.24 27.9
A∗02:06 B∗35:01 1.06 0.51 0.10 5.3 B∗35:01 DRB1∗12:01 0.79 0.50 0.10 9.0
A∗02:06 B∗40:02 1.16 0.83 0.15 10.7 B∗35:01 DRB1∗15:01 0.94 0.47 0.09 5.3
A∗02:06 B∗40:06 0.81 0.50 0.17 9.0 B∗37:01 DRB1∗10:01 1.16 1.14 0.92 679.5
A∗02:06 B∗48:01 1.15 0.83 0.27 23.6 B∗38:02 DRB1∗15:02 0.74 0.71 0.77 177.5
A∗02:06 B∗51:01 1.44 0.48 0.06 2.7 B∗39:01 DRB1∗08:03 0.63 0.55 0.51 37.6
A∗02:06 B∗54:01 0.74 0.23 0.05 1.1 B∗40:01 DRB1∗04:05 0.78 0.41 0.10 5.0
A∗02:07 B∗46:01 2.53 2.35 0.71 324.9 B∗40:01 DRB1∗08:03 0.73 0.42 0.11 6.1
A∗03:01 B∗44:02 0.63 0.61 0.47 174.6 B∗40:01 DRB1∗09:01 0.60 0.15 0.04 0.5
A∗11:01 B∗15:01 3.17 2.27 0.27 66.1 B∗40:02 DRB1∗04:05 0.56 0.13 0.03 0.4
A∗11:01 B∗27:05 0.54 0.19 0.06 1.2 B∗40:02 DRB1∗09:01 0.67 0.14 0.03 0.4
A∗11:01 B∗40:01 0.96 0.55 0.14 7.9 B∗40:02 DRB1∗14:54 0.78 0.61 0.20 24.0
A∗11:01 B∗51:01 0.86 -0.10 -0.11 0.1 B∗40:02 DRB1∗14:05 0.53 0.34 0.10 6.4
A∗11:01 B∗54:01 0.85 0.33 0.07 2.3 B∗40:02 DRB1∗15:01 0.61 0.20 0.04 1.1
A∗24:02 B∗07:02 2.92 1.98 0.62 53.3 B∗40:06 DRB1∗09:01 1.75 1.41 0.49 64.2
A∗24:02 B∗15:01 2.05 - 0.11 -0.05 0.1 B∗40:06 DRB1∗12:01 0.55 0.38 0.12 9.2
A∗24:02 B∗35:01 1.85 0.52 0.12 2.7 B∗44:02 DRB1∗04:05 0.53 0.41 0.34 16.0
A∗24:02 B∗39:01 0.57 0.30 0.34 4.3 B∗44:03 DRB1∗07:01 3.25 2.66 0.40 134.2
A∗24:02 B∗40:01 1.73 0.74 0.22 7.1 B∗44:03 DRB1∗13:02 3.95 3.32 0.46 195.7
A∗24:02 B∗40:02 0.99 -0.16 -0.14 0.3 B∗46:01 DRB1∗08:03 2.62 2.25 0.48 150.3
A∗24:02 B∗40:06 0.92 0.17 0.07 0.5 B∗46:01 DRB1∗09:01 1.55 1.02 0.22 22.0
A∗24:02 B∗46:01 0.74 -0.42 -0.36 2.0 B∗48:01 DRB1∗12:02 0.52 0.40 0.12 13.6
A∗24:02 B∗51:01 3.47 1.14 0.15 7.7 B∗48:01 DRB1∗15:01 0.53 0.26 0.08 2.6
A∗24:02 B∗52:01 2.11 1.58 0.88 59.0 B∗51:01 DRB1∗04:03 0.72 0.45 0.19 8.3
A∗24:02 B∗54:01 1.67 0.43 0.10 1.9 B∗51:01 DRB1∗04:05 1.48 0.62 0.08 5.1
A∗24:02 B∗55:02 0.54 0.14 0.10 0.6 B∗51:01 DRB1∗08:02 0.50 0.18 0.06 1.1
A∗24:02 B∗59:01 0.85 0.47 0.36 7.0 B∗51:01 DRB1∗09:01 1.74 0.68 0.08 5.2
A∗26:01 B∗15:01 0.52 0.16 0.05 0.8 B∗51:01 DRB1∗12:01 1.09 0.57 0.13 7.1
A∗26:01 B∗27:05 0.55 0.41 0.12 12.7 B∗51:01 DRB1∗13:01 0.69 0.50 0.30 14.1
A∗26:01 B∗35:01 0.80 0.58 0.16 16.4 B∗51:01 DRB1∗14:03 0.61 0.50 0.48 22.3
A∗26:01 B∗40:02 0.51 0.32 0.09 5.6 B∗51:01 DRB1∗14:05 0.71 0.34 0.10 3.3
A∗29:01 B∗07:05 0.53 0.53 1.00 948.0 B∗51:01 DRB1∗15:01 0.54 -0.28 -0.34 1.1
A∗30:01 B∗13:02 3.16 3.02 0.83 654.0 B∗52:01 DRB1∗15:02 1.69 1.62 0.72 382.5
A∗30:04 B∗14:01 1.16 1.15 1.00 948.0 B∗54:01 DRB1∗04:05 2.57 2.10 0.42 104.5
A∗31:01 B∗48:01 0.62 0.47 0.14 14.6 B∗54:01 DRB1∗15:01 1.41 0.98 0.20 24.0
A∗31:01 B∗51:01 1.54 1.08 0.27 28.4 B∗57:01 DRB1∗07:01 0.53 0.49 1.00 64.1
A∗33:03 B∗44:03 7.36 6.11 0.89 365.5 B∗58:01 DRB1∗03:01 1.90 1.77 0.85 254.1
A∗33:03 B∗58:01 5.38 4.49 0.93 271.1 B∗58:01 DRB1∗13:02 3.19 2.75 0.52 184.0
            B∗59:01 DRB1∗04:05 1.27 1.12 0.73 92.1

∗ Haplotypes with frequencies of >0.5% are listed. Haplotypes showing strong positive linkage disequilibrium (chi-square>10.8; P<0.001) are underlined and those with RLD values of >0.7 are in bold;

† RLD values of >0.7 are in bold.

Abbreviations: HF, haplotype frequency; LD, linkage disequilibrium; RLD, relative linkage disequilibrium.

Table 4.
Three-locus HLA haplotypes (A-C-B and A-B-DR) in Koreans (N=474)
A-C-B haplotype∗     HF (%) LD A-B-DR haplotype∗     HF (%) LD
A∗33:03 C∗03:02 B∗58:01 5.59 5.53 A∗33:03 B∗44:03 DRB1∗13:02 3.65 3.56
A∗33:03 C∗14:03 B∗44:03 4.09 4.03 A∗33:03 B∗44:03 DRB1∗07:01 3.02 2.93
A∗24:02 C∗14:02 B∗51:01 3.50 3.32 A∗33:03 B∗58:01 DRB1∗13:02 2.99 2.92
A∗30:01 C∗06:02 B∗13:02 3.16 3.15 A∗24:02 B∗07:02 DRB1∗01:01 2.84 2.77
A∗33:03 C∗07:01 B∗44:03 3.06 3.02 A∗30:01 B∗13:02 DRB1∗07:01 2.26 2.25
A∗11:01 C∗04:01 B∗15:01 3.05 2.99 A∗11:01 B∗15:01 DRB1∗04:06 2.21 2.16
A∗24:02 C∗07:02 B∗07:02 2.98 2.91 A∗33:03 B∗58:01 DRB1∗03:01 1.79 1.77
A∗02:07 C∗01:02 B∗46:01 2.32 2.29 A∗24:02 B∗52:01 DRB1∗15:02 1.69 1.67
A∗24:02 C∗12:02 B∗52:01 2.11 2.10 A∗02:07 B∗46:01 DRB1∗08:03 1.24 1.23
A∗02:01 C∗01:02 B∗27:05 1.64 1.53 A∗02:01 B∗27:05 DRB1∗01:01 1.15 1.10
A∗24:02 C∗01:02 B∗54:01 1.57 1.36 A∗02:06 B∗27:05 DRB1∗01:01 1.06 1.03
A∗02:01 C∗01:02 B∗54:01 1.57 1.41 A∗02:01 B∗54:01 DRB1∗04:05 1.05 0.97
A∗24:02 C∗03:04 B∗40:01 1.55 1.45 A∗24:02 B∗54:01 DRB1∗04:05 1.03 0.92
A∗24:02 C∗03:03 B∗35:01 1.43 1.29 A∗01:01 B∗37:01 DRB1∗10:01 0.84 0.84
A∗31:01 C∗14:02 B∗51:01 1.18 1.14 A∗02:01 B∗51:01 DRB1∗12:01 0.83 0.74
A∗30:04 C∗08:02 B∗14:01 1.16 1.16 A∗24:02 B∗15:01 DRB1∗04:06 0.78 0.67
A∗02:01 C∗14:02 B∗51:01 1.14 1.01 A∗02:06 B∗51:01 DRB1∗09:01 0.74 0.64
A∗02:01 C∗03:04 B∗40:02 1.08 1.00 A∗02:06 B∗54:01 DRB1∗15:01 0.74 0.70
A∗02:06 C∗14:02 B∗51:01 1.08 1.00 A∗02:01 B∗13:01 DRB1∗12:01 0.73 0.72
A∗02:06 C∗03:04 B∗40:02 1.00 0.95 A∗24:02 B∗59:01 DRB1∗04:05 0.72 0.68
A∗02:06 C∗03:03 B∗35:01 0.98 0.92 A∗24:02 B∗46:01 DRB1∗08:03 0.67 0.58
A∗01:01 C∗06:02 B∗37:01 0.95 0.95 A∗02:01 B∗54:01 DRB1∗15:01 0.62 0.54
A∗02:01 C∗08:01 B∗35:01 0.95 0.87 A∗24:02 B∗40:01 DRB1∗04:05 0.61 0.52
A∗02:06 C∗08:01 B∗48:01 0.91 0.89 A∗24:02 B∗40:06 DRB1∗09:01 0.61 0.54
A∗11:01 C∗01:02 B∗54:01 0.90 0.81 A∗02:07 B∗46:01 DRB1∗09:01 0.60 0.58
A∗02:01 C∗03:03 B∗15:01 0.88 0.71 A∗24:02 B∗15:01 DRB1∗15:01 0.59 0.42
A∗24:02 C∗01:02 B∗59:01 0.82 0.75 A∗24:02 B∗13:01 DRB1∗12:02 0.56 0.55
A∗02:01 C∗03:04 B∗13:01 0.74 0.71 A∗02:03 B∗38:02 DRB1∗15:02 0.53 0.53
A∗24:02 C∗08:01 B∗40:06 0.74 0.68 A∗24:02 B∗51:01 DRB1∗11:01 0.53 0.45
A∗02:06 C∗08:01 B∗40:06 0.73 0.71 A∗29:01 B∗07:05 DRB1∗08:03 0.53 0.53
A∗02:01 C∗01:02 B∗15:01 0.72 0.45 A∗30:04 B∗14:01 DRB1∗08:02 0.53 0.53
A∗02:01 C∗03:03 B∗15:11 0.65 0.61 A∗31:01 B∗51:01 DRB1∗08:02 0.53 0.53
A∗02:06 C∗01:02 B∗54:01 0.65 0.56 A∗33:03 B∗51:01 DRB1∗13:01 0.53 0.50
A∗03:01 C∗05:01 B∗44:02 0.63 0.63 A∗02:06 B∗35:01 DRB1∗11:01 0.51 0.49
A∗11:01 C∗14:02 B∗51:01 0.59 0.52          
A∗24:02 C∗01:02 B∗46:01 0.59 0.39          
A∗24:02 C∗04:01 B∗15:01 0.58 0.45          
A∗02:06 C∗01:02 B∗27:05 0.55 0.49          
A∗02:03 C∗07:02 B∗38:02 0.53 0.53          
A∗24:02 C∗03:04 B∗13:01 0.53 0.50          
A∗33:03 C∗03:02 B∗51:01 0.53 0.53          
A∗24:02 C∗03:03 B∗15:01 0.51 0.28          

∗ Haplotypes with frequencies of >0.5% are listed.

Abbreviations: HF, haplotype frequency; LD, linkage disequilibrium.

Table 5.
HLA gene frequencies (%) in Koreans (N=474) and Japanese (N=371)
HLA-A∗ Korean Japanese HLA-B∗ Korean Japanese HLA-C∗ Korean Japanese HLA-DRB1∗ Korean Japanese
A∗01:01 2.1 0.9 B∗07:02 4.1 6.5 C∗01:02 17.4 14.8 DRB1∗01:01 7.4 6.5
A∗02:01 16.5 11.5 B∗07:05 0.5   C∗01:03 0.9 0.4 DRB1∗03:01 2.2  
A∗02:03 0.5   B∗08:01 0.1   C∗02:02 0.6   DRB1∗04:01 0.4 0.7
A∗02:06 9.5 7.7 B∗13:01 1.6 1.5 C∗03:02 6.3 0.4 DRB1∗04:03 2.6 4.0
A∗02:07 3.5 2.2 B∗13:02 3.8 0.3 C∗03:03 10.9 12.1 DRB1∗04:04 0.9 0.1
A∗02:10 0.1 0.7 B∗14:01 1.2   C∗03:04 9.9 13.7 DRB1∗04:05 8.5 11.5
A∗02:18   0.1 B∗15:01 9.4 8.7 C∗04:01 6.0 4.6 DRB1∗04:06 5.3 3.5
A∗02:41 0.1   B∗15:02 0.4 0.1 C∗04:03 0.1   DRB1∗04:07 0.3 0.9
A∗03:01 1.6 0.4 B∗15:07 1.1 0.7 C∗05:01 1.5 0.4 DRB1∗04:10 0.8 1.8
A∗03:02   0.1 B∗15:11 2.1 0.4 C∗06:02 5.7 1.6 DRB1∗07:01 7.3 0.3
A∗11:01 9.5 8.2 B∗15:18 1.3 1.5 C∗07:01 3.3   DRB1∗08:02 3.2 4.0
A∗11:02   0.1 B∗15:27 0.1 0.1 C∗07:02 7.2 14.6 DRB1∗08:03 7.2 8.1
A∗24:02 22.9 37.9 B∗27:04 0.1 0.3 C∗07:04 0.5 0.9 DRB1∗09:01 10.4 12.4
A∗24:03 0.1   B∗27:05 3.6 0.1 C∗08:01 8.5 7.4 DRB1∗10:01 1.5 0.9
A∗24:04   0.1 B∗35:01 5.8 7.6 C∗08:02 1.2   DRB1∗11:01 3.2 3.4
A∗26:01 3.8 8.1 B∗35:03 0.4   C∗08:03 0.6 2.0 DRB1∗12:01 5.1 3.8
A∗26:02 2.2 2.3 B∗37:01 1.3 1.3 C∗12:02 2.3 10.5 DRB1∗12:02 3.6 1.5
A∗26:03 1.1 2.4 B∗38:02 0.9 0.1 C∗12:03 0.3   DRB1∗13:01 1.9 0.7
A∗26:04   0.1 B∗39:01 1.2 4.4 C∗14:02 7.9 4.9 DRB1∗13:02 7.8 7.7
A∗26:05   0.1 B∗39:02   0.5 C∗14:03 5.1 8.9 DRB1∗14:02 0.2  
A∗29:01 0.5   B∗39:04   0.1 C∗15:02 3.4 2.7 DRB1∗14:03 1.2 1.5
A∗30:01 3.8 0.1 B∗40:01 4.3 4.2 C∗15:05 0.4   DRB1∗14:05 3.7 1.1
A∗30:04 1.2   B∗40:02 5.1 8.6       DRB1∗14:06 0.2 1.8
A∗31:01 4.5 7.1 B∗40:03 0.5 0.3       DRB1∗14:07 0.2 0.3
A∗32:01 0.6   B∗40:06 3.2 3.9       DRB1∗14:12 0.1 0.1
A∗33:03 15.4 9.7 B∗44:02 1.3 0.4       DRB1∗14:54 3.3 4.2
A∗68:01 0.1   B∗44:03 8.1 8.7       DRB1∗15:01 8.0 8.5
      B∗46:01 5.1 3.6       DRB1∗15:02 3.0 10.0
      B∗47:01 0.1         DRB1∗16:02 0.5 0.9
      B∗48:01 3.4 3.0            
      B∗51:01 10.2 7.7            
      B∗51:02 0.9 0.1            
      B∗51:03   0.1            
      B∗52:01 2.3 10.7            
      B∗54:01 5.4 7.7            
      B∗55:02 1.8 1.9            
      B∗55:04 0.2 0.3            
      B∗56:01 0.2 0.5            
      B∗56:03   0.1            
      B∗56:05 0.1              
      B∗57:01 0.5              
      B∗58:01 5.7 0.4            
      B∗59:01 1.7 1.8            
      B∗67:01 0.3 1.1            

∗ HLA alleles with significantly different gene frequencies between Koreans and Japanese are underlined (P<0.001) or in bold (P<1×10-6).

Koreans: present study.

Japanese: from reference [26]. DRB1∗1401 (reported) is converted to DRB1∗14:54 in this table.

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