目的:基因成分在慢性淋巴组织增生性疾病的发生和发展中的意义一直是研究的主题。涉及这些病理的发生和进化的一些最重要的基因是HLA基因。本研究的目的是分析,第一次,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关联。
方法:本研究纳入了38例慢性淋巴增生性疾病患者,2021年至2022年在Fundeni临床研究所诊断,布加勒斯特,罗马尼亚,和50个健康对照。HLAI类和II类基因(HLA-A/B/C,通过使用序列特异性引物(SSP)进行高分辨率基因分型来研究HLA-DQB1/DPB1/DRB1)。
结果:一些HLA等位基因与慢性淋巴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)在慢性淋巴增生性疾病的发展中具有易感作用。此外,我们确定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。
结论:我们的研究表明,HLA-C*02:02和HLA-C*12:02与罗马尼亚患者的慢性淋巴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。
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.
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).
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.
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.