Korean J Transplant.  2022 Nov;36(Supple 1):S278. 10.4285/ATW2022.F-4190.

Allele and haplotype frequencies of 11 human leukocyte antigen loci in Koreans by next-generation sequencing

• Oh I
• Jung K
• Kim JG
• Shin S
• Roh EY
• Hong YJ
• Song EY

• KMID: 2535505
• DOI: http://doi.org/10.4285/ATW2022.F-4190

Abstract

Background
Data on human leukocyte antigen (HLA) genotype distribution, including DQA1 and DPA1, in the Korean population are limited. We aimed to investigate the allele and haplotype frequencies of 11 HLA loci in 339 Korean subjects using HLA typing based on next-generation sequencing (NGS).
Methods
A total of 339 samples from unrelated healthy subjects were genotyped for HLA-A, HLA-B, HLA-C, HLA-DRB1, HLADRB3, HLA-DRB4, HLA-DRB5, HLA-DQB1, HLA-DQA1, HLA-DPB1, and HLA-DPA1 using two different NGS-based HLA typing kits (166 tested using the NGSgo-MX11-3 kit [GenDx] and 173 by the AllType NGS 11 Loci Amplification kit [One Lambda]). PyPop software was used to estimate allele and haplotype frequencies and linkage disequilibrium between the loci. Additionally, a principal component analysis was performed to compare the allele distribution of Koreans with that of other populations.
Results
A total of 214 HLA alleles (97 class I and 117 class II alleles) were assigned. The most frequent alleles for each locus were A*24:02:01 (24.78%), B*15:01:01 (10.18%), C*01:02:01 (18.44%), DRB1*04:05:01 (9.59%), DRB3*02:02:01 (13.72%), DRB4*01:03:01 (25.81%), DRB5*01:01:01 (9.0%), DQA1*01:02:01 (16.96%), DQB1*03:01:01 (14.31%), DPA1*01:03:01 (44.4%), and DPB1*05:01:01 (35.10%), respectively. The most frequent haplotypes were A*33:03:01-B*58:01:01-C*03:02:02 for HLA class I (5.01%) and DRB1*04:05:01-DQA1*03:03:01-DQB1*04:01:01-DPA1*02:02:02-DPB1*05:01:01 for HLA class II (6.23%). The total al-lelic ambiguities by NGS were estimated to be minimal and considerably decreased compared to those by Sanger sequencing.
Conclusions
Frequency data of 11 HLA loci in Koreans can provide essential data for exact HLA typing for organ transplantation and disease association studies.