Analysis identifies common HLA alleles and homozygous haplotypes in healthy Chinese individuals, implying valuable genetic resources for various applications.
Using next-generation sequencing technology, we analysed 17-locus typing data from 10,059 healthy Chinese individuals to establish common and well-documented categories for HLA-E, -F, -G, -H, MICA and MICB alleles. In total, we identified 8 HLA-E, 5 HLA-F, 8 HLA-G, 15 HLA-H, 39 MICA and 27 MICB alleles. Alleles with frequencies greater than 10% included E*01:03, E*01:01, F*01:01, G*01:01, G*01:04, H*01:01, H*02:07, MICA*010:01, MICA*002:01, MICA*008:04, MICA*008:01, MICB*005:02 and MICB*002:01. Among the globally common alleles E*01:03 and E*01:01, E*01:03 was more prevalent than E*01:01 in Chinese and East Asian populations, whereas the opposite pattern was observed in African, European, Admixed American and South Asian populations. Subsequently, we identified 24 types of 17-locus homozygous haplotypes. Although these homozygotes were present in only 0.53% of individuals, their cumulative haplotype frequency reached 12.57%. As the number of loci increased from 3 to 17, the homozygosity carrier rate declined from 1.46% to 0.53%, with a pronounced decrease observed after inclusion of the DPB1 locus. Notably, most of the homozygotes identified in this study had not been reported in the 18th International HLA & Immunogenetics Workshop. For example, 26 of 27 types of 11-locus homozygotes were previously unrecorded. The establishment of a database for HLA-E, -F, -G, -H, MICA and MICB alleles, as well as the distribution of homozygotes in the Chinese population, will provide valuable resources for genetic research, disease susceptibility, transplantation and cell therapy.
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Li et al. (2026) studied this question.
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