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HLA ‐A, HLA ‐B and HLA ‐ DRB 1 allele and haplotype frequencies of 10 918 Koreans from bone marrow donor registry in Korea
Author(s) -
Park H.,
Lee Y.j.,
Song E. Y.,
Park M. H.
Publication year - 2016
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/iji.12288
Subject(s) - allele , human leukocyte antigen , haplotype , hla a , typing , biology , allele frequency , immunology , locus (genetics) , genetics , transplantation , hematopoietic stem cell transplantation , antigen , medicine , stem cell , gene
Summary The human leucocyte antigen ( HLA ) system is the most polymorphic genetic system in humans, and HLA matching is crucial in organ transplantation, especially in hematopoietic stem cell transplantation. We investigated HLA ‐A, HLA ‐B and HLA ‐ DRB 1 allele and haplotype frequencies at allelic level in 10 918 Koreans from bone marrow donor registry in Korea. Intermediate resolution HLA typing was performed using Luminex technology (Wakunaga, Japan), and additional allelic level typing was performed using PCR –single‐strand conformation polymorphism method and/or sequence‐based typing (Abbott Molecular, USA ). Allele and haplotype frequencies were calculated by direct counting and maximum likelihood methods, respectively. A total of 39 HLA ‐A, 66 HLA ‐B and 47 HLA ‐ DRB 1 alleles were identified. High‐frequency alleles found at a frequency of ≥5% were 6 HLA ‐A ( A*02:01 , *02:06 , *11:01 , *24:02 , *31:01 and *33:03 ), 6 HLA ‐B ( B*15:01 , *35:01 , *44:03 , *51:01 , 54:01 and *58:01 ) and 8 HLA ‐ DRB 1 ( DRB 1*01:01 , *04:05 , *04:06 , *07:01 , *08:03 , *09:01 , *13:02 and *15:01 ) alleles. At each locus, A*02, B*15 and DRB 1*14 generic groups were most diverse at allelic level, consisting of 9, 12 and 11 different alleles, respectively. A total of 366, 197 and 21 different HLA ‐A‐B‐ DRB 1 haplotypes were estimated with frequencies of ≥0.05%, ≥0.1% and ≥0.5%, respectively. The five most common haplotypes with frequencies of ≥2.0% were A*33:03‐B*44:03‐ DRB 1*13:02 (4.97%), A*33:03‐B*58:01‐ DRB 1*13:02 , A*33:03‐B*44:03‐ DRB 1*07:01 , A*24:02‐B*07:02‐ DRB 1*01:01 and A*24:02‐B*52:01‐ DRB 1*15:02 . Among 34 serologic HLA ‐A‐B‐ DR haplotypes with frequencies of ≥0.5%, 17 haplotypes revealed allele‐level diversity and majority of the allelic variation was arising from A2, A26, B61, B62, DR 4 and DR 14 specificities. Haplotype diversity obtained in this study is the most comprehensive data thus far reported in Koreans, and the information will be useful for unrelated stem cell transplantation as well as for disease association studies.