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罗马尼亚患者慢性淋巴细胞增殖性疾病的免疫遗传学背景——病例对照研究。

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

机构信息

Immunology and Transplant Immunology, Carol Davila University of Medicine and Pharmacy, 258 Fundeni Avenue, 022328 Bucharest, Romania.

Centre of Immunogenetics and Virology, Fundeni Clinical Institute, 258 Fundeni Avenue, 022328 Bucharest, Romania.

出版信息

Med Sci (Basel). 2024 Feb 23;12(1):14. doi: 10.3390/medsci12010014.

DOI:10.3390/medsci12010014
PMID:38535155
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10972167/
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-C02:02 ( = 0.002, OR = 1.101), and HLA-C12:02 ( = 0.002, OR = 1.101) have a predisposing role in the development of chronic lymphoproliferative disorders. Moreover, we identified that HLA-A11:01 ( = 0.01, OR = 0.16), HLA-B35:02 ( = 0.037, OR = 0.94), HLA-B81:01 ( = 0.037, OR = 0.94), HLA-C07:02 ( = 0.036, OR = 0.34), HLA-DRB111:01 ( = 0.021, OR = 0.19), and HLA-DRB113:02 ( = 0.037, OR = 0.94), alleles have protective roles.

CONCLUSIONS

Our study indicates that HLA-C02:02 and HLA-C12:02 are positively associated with chronic lymphoproliferative disorders for our Romanian patients while HLA-DRB111:01, HLA-DRB113:02, and HLA-B*35:02 alleles have a protective role against these diseases.

摘要

背景与目的

遗传因素在慢性淋巴增殖性疾病的发生和发展中的作用一直是研究的热点。在这些疾病的发生和演变中,最重要的基因之一是 HLA 基因。本研究的目的是首次分析罗马尼亚人群中慢性淋巴增殖性疾病与某些 HLA 等位基因之间可能存在的关联。

材料与方法

本研究纳入了 2021 年至 2022 年在罗马尼亚布加勒斯特 Fundeni 临床研究所诊断为慢性淋巴增殖性疾病的 38 例患者和 50 例健康对照者。采用序列特异性引物(SSP)进行高分辨率基因分型,检测 HLA Ⅰ类和Ⅱ类基因(HLA-A/B/C、HLA-DQB1/DPB1/DRB1)。

结果

多个 HLA 等位基因与慢性淋巴增殖性疾病密切相关。最重要的发现是 HLA-C02:02(=0.002,OR=1.101)和 HLA-C12:02(=0.002,OR=1.101)等位基因在慢性淋巴增殖性疾病的发生中起易患作用。此外,我们发现 HLA-A11:01(=0.01,OR=0.16)、HLA-B35:02(=0.037,OR=0.94)、HLA-B81:01(=0.037,OR=0.94)、HLA-C07:02(=0.036,OR=0.34)、HLA-DRB111:01(=0.021,OR=0.19)和 HLA-DRB113:02(=0.037,OR=0.94)等位基因具有保护作用。

结论

本研究表明,对于我们的罗马尼亚患者,HLA-C02:02 和 HLA-C12:02 与慢性淋巴增殖性疾病呈正相关,而 HLA-DRB111:01、HLA-DRB113:02 和 HLA-B*35:02 等位基因对这些疾病具有保护作用。