il - 18启动子序列的功能变异与疾病易感性和系统性红斑狼疮临床参数的显著关联

IF 1.9 4区 医学 Q3 RHEUMATOLOGY
Lupus Pub Date : 2025-05-01 Epub Date: 2025-03-28 DOI:10.1177/09612033251331256
Yousef Mohammadi, Mozhdeh Saghaei, Mostafa Saghi, Seyed Amirhosein Mazhari, Behrang Alani, Naeim Ehtesham, Taiebe Kenarangi, Mohsen Soosanabadi
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引用次数: 0

摘要

目的系统性红斑狼疮(SLE)是一种病因复杂的慢性自身免疫性疾病。白细胞介素-18 (IL-18)具有促炎特性,在SLE的发展中起核心作用。在本研究中,我们评估了影响IL-18表达的两种功能变异,即-607C > A (rs1946518)和-137G > C (rs187238)与SLE发展风险之间的关系。方法采用病例对照研究方法,采集121例SLE患者和130例健康人外周血样本251份。采用实时聚合酶链反应的高分辨率熔融(HRM)方法对这些多态性进行基因分型。结果我们的研究结果揭示了rs1946518的AA基因型和a等位基因之间的显著关联,显示SLE的风险降低(AA vs CC;OR: 0.386;95% CI [0.174-0.828], A vs C;OR: 0.548;95% ci[0.369-0.809])。类似地,rs187238的CC基因型和C等位基因也表现出类似的趋势(CC vs GG;OR: 0.240;95% CI [0.055 ~ 0.803], C vs G;OR: 0.604;95% CI[0.90 -0.928]),表明SLE的风险降低。此外,具有rs1946518 (AA + AC)保护性等位基因的SLE受试者CRP、Anti-dsDNA水平显著降低,提示疾病活动性降低。这些患者发病年龄较晚,肾脏受累发生率和肌酐水平较低,表明疾病严重程度较轻(p < 0.05)。结论本研究提示IL-18 rs1946518和rs187238变异与SLE风险降低有显著关系。此外,rs1946518被发现与某些与疾病活动性和严重程度相关的临床特征相关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Significant association of functional variants in the promoter sequence of IL18 with disease susceptibility and systemic lupus erythematosus clinical parameters.

ObjectiveSystemic lupus erythematosus (SLE) is a chronic autoimmune disease with a complex etiology. Interleukin-18 (IL-18) possesses pro-inflammatory properties and plays a central role in the development of SLE. In this study, we assessed the association between two functional variants that affect the expression of IL-18, namely -607C > A (rs1946518) and -137G > C (rs187238), and the risk of SLE development.MethodsAs a case-control study, 251 peripheral blood samples were collected from 121 SLE patients and 130 healthy participants. Genotyping of these polymorphisms was performed using the high-resolution melting (HRM) method, which employs real-time polymerase chain reaction.ResultsOur findings revealed a significant association between the AA genotype and A allele in rs1946518, showing a decreased risk of SLE (AA vs CC; OR: 0.386; 95% CI [0.174-0.828], A vs C; OR: 0.548; 95% CI [0.369-0.809]). Analogously, the CC genotype and C allele in rs187238 exhibited a similar trend (CC vs GG; OR: 0.240; 95% CI [0.055-0.803], C vs G; OR: 0.604; 95% CI [0.390-0.928]), indicating a reduced risk of SLE Moreover, SLE subjects with the protective allele in rs1946518 (AA + AC) demonstrated significantly lower levels of CRP, and Anti-dsDNA, suggesting lower disease activity. These patients also had a later age of onset, and a lower incidence of renal involvement and creatinine levels, indicating milder disease severity (p < .05).ConclusionThe study indicates a significant relationship between the rs1946518 and rs187238 variants in IL-18 and a reduced risk of SLE. Furthermore, rs1946518 was found to be associated with certain clinical features related to disease activity and severity.

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来源期刊
Lupus
Lupus 医学-风湿病学
CiteScore
4.20
自引率
11.50%
发文量
225
审稿时长
1 months
期刊介绍: The only fully peer reviewed international journal devoted exclusively to lupus (and related disease) research. Lupus includes the most promising new clinical and laboratory-based studies from leading specialists in all lupus-related disciplines. Invaluable reading, with extended coverage, lupus-related disciplines include: Rheumatology, Dermatology, Immunology, Obstetrics, Psychiatry and Cardiovascular Research…
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