希腊人口中 HLA I 类和 II 类等位基因的频率分布及其在协调国家捐献者登记计划中的意义。

IF 2.3 4区医学 Q3 GENETICS & HEREDITY

International Journal of Immunogenetics Pub Date : 2024-03-08 DOI:10.1111/iji.12663

Panagiotis Mallis, Alexandra Siorenta, Erasmia Stamathioudaki, Vasiliki Vrani, George Paterakis

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引用次数: 0

摘要

人类白细胞抗原（HLA）是人类最多态的系统之一，负责识别外来抗原并产生免疫反应。因此，HLA 被认为在人类疾病、供体-受体匹配和移植结果中起着重要作用。本研究旨在确定希腊人群中的 HLA I 类和 II 类等位基因及单倍型。此外，还对希腊和欧洲人群中发现的 HLA 等位基因和单倍型频率进行了比较分析，以更好地了解 HLA 等位基因的分布情况。希腊国家组织配型中心共对 1896 名健康人进行了 HLA 等位基因配型。利用下一代测序分析对 HLA-A、-B、-C 和-DR、-DQ、-DP 进行了高分辨率 HLA 分型，随后进行了数据分析，以确定 HLA 等位基因和单倍型差异。研究结果显示，HLA-A 最常见的等位基因是 A*02:01:01（27.1%）、*24:02:01（14.4%）、*01:01:01（9.3%），HLA-B 的基因为 B*51:01:01 (15.3%)、*18:01:01 (9.7%)、*35:01:01 (6.8%)，HLA-C 的基因为 C*04:01:01 (15.4%)、*07:01:01 (13.1%)、*12:03:01 (9.6%)。在 HLA II 类中，HLA-DRB1 最常见的等位基因是 DRB1*11:04:01 (16.4%)、*16:01:01 (11.3%)、*11:01:01 (9.5%)，HLA-DQB1 最常见的等位基因是 DQB1*03:01:01 (30.5%)、*05:02:01 (13.1%)、*12:03:01 (9.6%)。5%）、*05:02:01（15.1%）、*05:01:01（10.6%）；HLA-DPB1则为DPB1*04:01:01（34.8%）、*02:01:01（11.6%）、*04:02:01（7.3%）。此外，最常见的单倍型是 A*02:01:01∼C*07:01:01-B*18:01:01∼DRB1*11:04:01 (2.3%)，其次是 A*01:01:01∼C*07:01:01∼B*08:01:01∼DRB1*03:01:01 (2。2%）、A*24:02:01∼C*04:01:01∼B*35:02:01∼DRB1*11:04:01（1.4%）和 A*02:01:01∼C*04:01:01∼B*35:01:01-DRB1*14:01:01（1.2%）。这些结果与从欧洲人群中得出的结果具有可比性。此外，这些结果可用于改进供体与受体的匹配程序，并更好地了解希腊的疾病关联。

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Frequency distribution of HLA class I and II alleles in Greek population and their significance in orchestrating the National Donor Registry Program

Human leukocyte antigens (HLA) represent one of the most polymorphic systems in humans, responsible for the identification of foreign antigens and the presentation of immune responses. Therefore, HLA is considered to play a major role in human disorders, donor-recipient matching and transplantation outcomes. This study aimed to determine the HLA class I and II alleles and haplotypes in the Greek population. Moreover, a comparative analysis of HLA alleles and haplotype frequencies found in Greek and pooled European populations was also performed to acquire a better knowledge about the HLA alleles distribution. A total number of 1896 healthy individuals were typed for their HLA alleles in the National Tissue Typing Center of Greece. High-resolution HLA typing for the HLA-A, -B, -C and -DR, -DQ, -DP with the use of the next-generation sequencing analysis was performed, followed by data analysis for establishing the HLA allele and haplotype differences. The results of this study showed that the most frequent alleles for the HLA-A were the A*02:01:01 (27.1%), *24:02:01 (14.4%), *01:01:01 (9.3%), for the HLA-B were the B*51:01:01 (15.3%), *18:01:01 (9.7%), *35:01:01 (6.8%) and for the HLA-C were the C*04:01:01 (15.4%), *07:01:01 (13.1%), *12:03:01 (9.6%). For the HLA class II, the most frequent alleles for the HLA-DRB1 were the DRB1*11:04:01 (16.4%), *16:01:01 (11.3%), *11:01:01 (9.5%), for the HLA-DQB1 were the DQB1*03:01:01 (30.5%), *05:02:01 (15.1%), *05:01:01 (10.6%) and for the HLA-DPB1 were the DPB1*04:01:01 (34.8%), *02:01:01 (11.6%), *04:02:01 (7.3%). Additionally, the most frequent haplotypes were the A*02:01:01∼C*07:01:01-B*18:01:01∼DRB1*11:04:01 (2.3%), followed by the A*01:01:01∼C*07:01:01∼B*08:01:01∼DRB1*03:01:01 (2.2%), A*24:02:01∼C*04:01:01∼B*35:02:01∼DRB1*11:04:01 (1.4%) and A*02:01:01∼C*04:01:01∼B*35:01:01-DRB1*14:01:01 (1.2%). The results herein were comparable to those obtained from the pooled European populations. Moreover, these results can be used for the improvement of the donor-recipient matching procedure and to understand better the disease association in Greece.

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来源期刊

International Journal of Immunogenetics 医学-免疫学

CiteScore

4.70

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： The International Journal of Immunogenetics (formerly European Journal of Immunogenetics) publishes original contributions on the genetic control of components of the immune system and their interactions in both humans and experimental animals. The term ''genetic'' is taken in its broadest sense to include studies at the evolutionary, molecular, chromosomal functional and population levels in both health and disease. Examples are: -studies of blood groups and other surface antigens- cell interactions and immune response- receptors, antibodies, complement components and cytokines- polymorphism- evolution of the organisation, control and function of immune system components- anthropology and disease associations- the genetics of immune-related disease: allergy, autoimmunity, immunodeficiency and other immune pathologies- All papers are seen by at least two independent referees and only papers of the highest quality are accepted.