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HLA-DRA、HLA-DQA1和IL-6基因变异与多发性硬化易感性的关联。

Association of HLA-DRA, HLA-DQA1, and IL-6 gene variations with susceptibility to multiple sclerosis.

作者信息

Koc Gulsah, Sahbaz Aysegul, Oguz Selcuk Busranur, Mayda Domac Fusun, Demir Serkan, Koseoglu Mesrure, Uludasdemir Ebru Hatun, Kirac Deniz

机构信息

Faculty of Medicine, Department of Medical Biology, Istanbul Aydin University, Istanbul, Turkey.

Faculty of Medicine, Department of Medical Biology, Yeditepe University, Istanbul, Turkey.

出版信息

Mol Biol Rep. 2025 Jul 11;52(1):701. doi: 10.1007/s11033-025-10783-x.

DOI:10.1007/s11033-025-10783-x
PMID:40643781
Abstract

BACKGROUND

Multiple sclerosis (MS), which can lead to severe physical or cognitive disability and neurological deficits, is a chronic autoimmune disease affecting the central nervous system (CNS). The etiology and pathogenesis of MS remain unclear; nonetheless, it is asserted that its cause is complex, with genetic predisposition playing a significant role. In this study, our aim was to analyze the relationship between MS and HLA-DRA (rs3135388 and rs3135391), HLA-DQA1 (rs9272346) and IL-6 (rs1800795 and rs1900796) gene polymorphisms, which play an important role in inflammation and immune response.

METHODS

The study included 100 healthy controls and 98 MS patients. Real-time polymerase chain reaction (RT-PCR) was used to analyze variations in rs3135388 and rs3135391 in the HLA-DRA gene, rs9272346 in the HLA-DQA1 gene, and rs1800795 and rs1900796 in the IL-6 gene following DNA isolation from peripheral blood. Statistical techniques were applied to assess the outcomes.

RESULTS

The results showed a significant difference in IL-6 (rs1800796) G/C (p = 0.024) between the patient and control groups when genotypes and allele distributions were analyzed. HLA-DQA1 (rs9272346) and HLA-DRA (rs3135388 and rs3135391) variations did not substantially differ between the two groups. Similarly, no significant difference was found between the two groups in VitD, B12 and folic acid parameters, and there was no relationship between these parameters and genotypes.

CONCLUSION

There is evidence suggesting a significant association between IL-6 (rs1800796) polymorphisms and MS. IL-6 (rs1800796) GC genotype may be associated with disease susceptibility or risk. This should be taken into account in association and intervention studies on MS.

摘要

背景

多发性硬化症(MS)是一种影响中枢神经系统(CNS)的慢性自身免疫性疾病,可导致严重的身体或认知残疾以及神经功能缺损。MS的病因和发病机制尚不清楚;然而,有人认为其病因复杂,遗传易感性起着重要作用。在本研究中,我们的目的是分析MS与HLA - DRA(rs3135388和rs3135391)、HLA - DQA1(rs9272346)和IL - 6(rs1800795和rs1900796)基因多态性之间的关系,这些基因多态性在炎症和免疫反应中起重要作用。

方法

该研究纳入了100名健康对照者和98名MS患者。从外周血中分离DNA后,采用实时聚合酶链反应(RT - PCR)分析HLA - DRA基因中的rs3135388和rs3135391、HLA - DQA1基因中的rs9272346以及IL - 6基因中的rs1800795和rs1900796的变异情况。应用统计技术评估结果。

结果

分析基因型和等位基因分布时,患者组和对照组之间在IL - 6(rs1800796)G/C方面存在显著差异(p = 0.024)。两组之间HLA - DQA1(rs9272346)和HLA - DRA(rs3135388和rs3135391)的变异没有实质性差异。同样,两组在维生素D、维生素B12和叶酸参数方面没有显著差异,并且这些参数与基因型之间没有关系。

结论

有证据表明IL - 6(rs1800796)多态性与MS之间存在显著关联。IL - 6(rs1800796)GC基因型可能与疾病易感性或风险相关。在MS的关联和干预研究中应考虑到这一点。

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