Immunogenetic Background of Chronic Lymphoproliferative Disorders in Romanian Patients-Case Control Study.

Q1 Medicine Medical sciences (Basel, Switzerland) Pub Date : 2024-02-23 DOI:10.3390/medsci12010014

Maria Tizu, Bogdan Calenic, Ion Maruntelu, Andreea Mirela Caragea, Adriana Talangescu, Larisa Ursu, Corina Rotarescu, Mariana Surugiu, Alexandra Elena Constantinescu, Ileana Constantinescu

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Abstract

Background and objectives: The implications of the genetic component in the initiation and development of chronic lymphoproliferative disorders have been the subject of intense research efforts. Some of the most important genes involved in the occurrence and evolution of these pathologies are the HLA genes. The aim of this study is to analyze, for the first time, possible associations between chronic lymphoproliferative diseases and certain HLA alleles in the Romanian population.

Materials and methods: This study included 38 patients with chronic lymphoproliferative disorders, diagnosed between 2021 and 2022 at Fundeni Clinical Institute, Bucharest, Romania, and 50 healthy controls. HLA class I and class II genes (HLA-A/B/C, HLA-DQB1/DPB1/DRB1) were investigated by doing high resolution genotyping using sequence specific primers (SSP).

Results: Several HLA alleles were strongly associated with chronic lymphoproliferative disorders. The most important finding was that the HLA-C*02:02 (p = 0.002, OR = 1.101), and HLA-C*12:02 (p = 0.002, OR = 1.101) have a predisposing role in the development of chronic lymphoproliferative disorders. Moreover, we identified that HLA-A*11:01 (p = 0.01, OR = 0.16), HLA-B*35:02 (p = 0.037, OR = 0.94), HLA-B*81:01 (p = 0.037, OR = 0.94), HLA-C*07:02 (p = 0.036, OR = 0.34), HLA-DRB1*11:01 (p = 0.021, OR = 0.19), and HLA-DRB1*13:02 (p = 0.037, OR = 0.94), alleles have protective roles.

Conclusions: Our study indicates that HLA-C*02:02 and HLA-C*12:02 are positively associated with chronic lymphoproliferative disorders for our Romanian patients while HLA-DRB1*11:01, HLA-DRB1*13:02, and HLA-B*35:02 alleles have a protective role against these diseases.

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罗马尼亚患者慢性淋巴细胞增生性疾病的免疫遗传背景--病例对照研究

背景和目的：遗传因素在慢性淋巴细胞增生性疾病的发生和发展过程中的影响一直是研究的热点。与这些病症的发生和演变有关的一些最重要的基因是 HLA 基因。本研究旨在首次分析罗马尼亚人群中慢性淋巴组织增生性疾病与某些 HLA 等位基因之间可能存在的关联：研究对象包括罗马尼亚布加勒斯特 Fundeni 临床研究所 2021 年至 2022 年期间确诊的 38 名慢性淋巴组织增生性疾病患者和 50 名健康对照者。通过使用序列特异性引物（SSP）进行高分辨率基因分型，对 HLA I 类和 II 类基因（HLA-A/B/C、HLA-DQB1/DPB1/DRB1）进行了研究：结果：几种 HLA 等位基因与慢性淋巴组织增生性疾病密切相关。最重要的发现是，HLA-C*02:02（p = 0.002，OR = 1.101）和 HLA-C*12:02（p = 0.002，OR = 1.101）在慢性淋巴组织增生性疾病的发病中具有易感性。此外，我们还发现，HLA-A*11:01（p = 0.01，OR = 0.16）、HLA-B*35:02（p = 0.037，OR = 0.94）、HLA-B*81:01（p = 0.037，OR = 0.94）、HLA-C*07:02（p = 0.036，OR = 0.34）、HLA-DRB1*11:01（p = 0.021，OR = 0.19）和 HLA-DRB1*13:02 （p = 0.037，OR = 0.94）等位基因具有保护作用：我们的研究表明，对于罗马尼亚患者来说，HLA-C*02:02 和 HLA-C*12:02 与慢性淋巴组织增生性疾病呈正相关，而 HLA-DRB1*11:01、HLA-DRB1*13:02 和 HLA-B*35:02 等位基因对这些疾病具有保护作用。

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