Background: Among the 125 ethnicities and linguistic groups in Kazakhstan, Koreans represent the eighth minority numerically. HLA class I and class II allele frequencies and extended haplotypes were studied for the first time and were compared to related and distant populations worldwide.
Methods: HLA class I (A, B, C) and class II (DRB1, DQB1) profile was investigated in Kazakhstani Koreans, and were compared to other populations using standard genetic distances (SGD), neighbor-joining dendrograms, correspondence, and haplotype analysis.
Results: One hundred and thirty-one HLA alleles were identified in Koreans living in Kazakhstan, with A*02:01 (23.08%), B*35:01 (8.24%), C*01:02 (15.38%), DRB1*08:03 (9.89%), and DQB1*03:01 (21.98%) being the most frequent alleles. A*03:01 ∼ B*07:02 (3.85%), B*08:01 ∼ DRB1*03:01 (3.85%), B*07:02 ∼ C*07:02 (7.14%), and DRB1*08:03 ∼ DQB1*06:01 (9.34%) were the most frequent two-locus haplotypes, while A*02:01 ∼ B*18:01 ∼ C*07:01 ∼ DRB1*11:04 ∼ DQB1*03:01 and A*33:03 ∼ B*44:03 ∼ C*14:03 ∼ DRB1*13:02 ∼ DQB1*06:04 (2.2% each) were the most frequent five-locus haplotypes.
Conclusion: Korean minority in Kazakhstan was closely related to East Asians, including Mongolians (SGD, 0.044), Tuvans (East Siberia; SGD, 0.081), Burayts (Siberia; SGD, 0.094), but distant from East Mediterranean such as Lebanese (SGD, 0.367), Greek (SGD, 0.377), and Saudi (SGD, 0.414), and most Siberians (SGD, 0.473-0.699). This relatedness could be mainly attributed to massive migration of Koryo Saram to Kazakhstan in the 20th century.
Keywords: Alleles; Genotyping; HLA; Haplotypes; Kazakhstan; Koreans.
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