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人类白细胞抗原II类基因与多发性硬化症的关联:约旦多发性硬化症患者的免疫遗传学预测

HLA-class II genes association with multiple sclerosis: An immunogenetic prediction among multiple sclerosis Jordanian patients.

作者信息

Khdair Sawsan I, Al-Khareisha Lubna, Abusara Osama H, Hammad Alaa M, Khudair Alaa

机构信息

Faculty of Pharmacy, Al-Zaytoonah University of Jordan, Amman , Jordan.

Department of Pharmacy, Al-Bashir Hospital, Amman, Jordan.

出版信息

PLoS One. 2025 Feb 25;20(2):e0318824. doi: 10.1371/journal.pone.0318824. eCollection 2025.

DOI:10.1371/journal.pone.0318824
PMID:39999097
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11856260/
Abstract

Multiple sclerosis (MS) is an inflammatory autoimmune disease affecting the central nervous system (CNS). The pathogenesis of MS is characterized by neuronal axonal degeneration and demyelination. Among the genes that raises MS risk are the HLA-class II genes. The goals of this study were to investigate the role of the HLA-DRB1 and HLA-DQB1 genes (for the first time) in Jordanian MS patients and their association with MS disease. The association of these genes with other clinical features, such as optic neuritis, sensory impairment, and brainstem symptoms in MS patients was investigated as well using PCR-SSP techniques. Our findings indicated an association between HLA-DRB1 * 03:01 (Pc =  0.01) and HLA-DRB1 * 04:01 (Pc =  0.004) alleles with Jordanian MS patients. In addition, a significant linkage between HLA-DRB1 * 15:01 and HLA-DQB1 * 06:01 alleles (Pc ≤  0.001 and Pc =  0.012, respectively) were presented among Jordanian MS patients with optic neuritis compared to Jordanian MS patients without optic neuritis. Moreover, HLA-DQB1 * 05:01 and HLA-DQB1 * 06:02 alleles (Pc ≤  0.001 and Pc =  0.006, respectively) was found to be related with sensory impairment in MS patients. Additionally, HLA-DRB1 * 07:01 allele indicates a positive correlation in MS patients with brainstem symptoms (Pc <  0.001). Moreover, our results indicated that there is no association on the HLA-DRB1 ~ HLA-DQB1 haplotype level and MS disease. Knowing the genes that are linked to MS, they may facilitate MS diagnosis, prevention, and treatment at earlier stage. Also, these results may serve in the development of more potent therapeutic regimens for MS and its related complications, such as optic neuritis, sensory impairment, and brainstem symptoms.

摘要

多发性硬化症(MS)是一种影响中枢神经系统(CNS)的炎性自身免疫性疾病。MS的发病机制以神经元轴突变性和脱髓鞘为特征。增加MS风险的基因中包括HLA - II类基因。本研究的目的是(首次)调查HLA - DRB1和HLA - DQB1基因在约旦MS患者中的作用及其与MS疾病的关联。还使用聚合酶链反应 - 序列特异性引物(PCR - SSP)技术研究了这些基因与MS患者其他临床特征(如视神经炎、感觉障碍和脑干症状)之间的关联。我们的研究结果表明,HLA - DRB1 * 03:01(Pc = 0.01)和HLA - DRB1 * 04:01(Pc = 0.004)等位基因与约旦MS患者相关。此外,与无视神经炎的约旦MS患者相比,在患有视神经炎的约旦MS患者中,HLA - DRB1 * 15:01和HLA - DQB1 * 06:01等位基因之间存在显著连锁(Pc分别≤0.001和Pc = 0.012)。此外,发现HLA - DQB1 * 05:01和HLA - DQB1 * 06:02等位基因(Pc分别≤0.001和Pc = 0.006)与MS患者的感觉障碍有关。另外,HLA - DRB1 * 07:01等位基因表明在患有脑干症状的MS患者中呈正相关(Pc <0.001)。此外,我们的结果表明,在HLA - DRB1~HLA - DQB1单倍型水平与MS疾病之间没有关联。了解与MS相关的基因,可能有助于在早期阶段进行MS的诊断、预防和治疗。此外,这些结果可能有助于开发针对MS及其相关并发症(如视神经炎、感觉障碍和脑干症状)更有效的治疗方案。