Olieslagers Timo I, Tagen Ingrid, Groeneweg Mathijs, Tilanus Marcel G J, Wieten Lotte, Voorter Christina E M
Maastricht University Medical Center+, Transplantation Immunology, Tissue Typing Laboratory, Maastricht, the Netherlands.
GROW - Research Institute for Oncology and Reproduction, Maastricht University Medical Center+, Maastricht, the Netherlands.
Immunogenetics. 2025 Jul 10;77(1):24. doi: 10.1007/s00251-025-01381-z.
Estonia is a small country in the Baltic region of Northern Europe with 1.3 million inhabitants. As a coastal area, the population of Estonia was subjected to migration influences. Due to this admixture of populations, HLA gene diversity in Estonia is interesting to study with regard to allele frequencies, haplotypes, and polymorphism. In this study, we focused on HLA-E polymorphism within the Estonian population and compared these with the polymorphism identified in other populations. Full-length HLA-E sequencing of 143 individuals originating from Estonia show dimorphism frequencies at amino acid position 107 (0.55 R vs 0.45 G) comparable to other populations. Within the study population, 16 different HLA-E alleles were identified, including four novel alleles. These 16 alleles encode four different protein variants. Despite a strong differentiation between the South-East and the rest of the Estonian country, no allele frequency differences for HLA-E between these regions were identified. Comparing the allele and SNP frequencies to frequencies found in the different neighboring countries revealed no major differences, except for the SNP encoding for HLA-E01:06. Association analysis between classical HLA class I genes and polymorphism at amino acid position 107 of HLA-E revealed higher frequencies of HLA-A01 with R107 and HLA-A03 and HLA-C04 with G107. In summary, our study provides new insights into HLA-E variation within the Estonian population and demonstrates that its level of polymorphism is comparable to those observed in other global populations.
爱沙尼亚是北欧波罗的海地区的一个小国，有130万居民。作为一个沿海地区，爱沙尼亚的人口受到移民的影响。由于这种人口混合，爱沙尼亚的HLA基因多样性在等位基因频率、单倍型和多态性方面很值得研究。在本研究中，我们聚焦于爱沙尼亚人群中的HLA-E多态性，并将其与在其他人群中鉴定出的多态性进行比较。对143名来自爱沙尼亚的个体进行的全长HLA-E测序显示，第107位氨基酸处的二态性频率（0.55为R，0.45为G）与其他人群相当。在研究人群中，鉴定出了16种不同的HLA-E等位基因，包括4种新等位基因。这16个等位基因编码4种不同的蛋白质变体。尽管爱沙尼亚东南部与该国其他地区之间存在强烈分化，但未发现这些地区之间HLA-E的等位基因频率存在差异。将等位基因和SNP频率与不同邻国的频率进行比较，发现除了编码HLA-E01:06的SNP外，没有重大差异。经典HLA I类基因与HLA-E第107位氨基酸多态性之间的关联分析显示，R107与HLA-A01、G107与HLA-A03和HLA-C04的频率较高。总之，我们的研究为爱沙尼亚人群中HLA-E的变异提供了新的见解，并表明其多态性水平与在其他全球人群中观察到的相当。
