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IL-37 基因变异(rs3811047):类风湿关节炎疾病活动的标志物:一项初步研究。

IL-37 gene variant (rs3811047): A marker of disease activity in rheumatoid arthritis: A pilot study.

机构信息

a Clinical Pathology Department, Faculty of Medicine , Suez Canal University , Ismailia , Egypt.

b Rheumatology, Physical Medicine, and Rehabilitation Department, Faculty of Medicine , Suez Canal University , Ismailia , Egypt.

出版信息

Autoimmunity. 2018 Dec;51(8):378-385. doi: 10.1080/08916934.2018.1551373. Epub 2018 Dec 28.

Abstract

BACKGROUND

Rheumatoid arthritis (RA) is a joint destructive disorder with great morbidity. Unraveling genetic determinants causing the disease would pave the road towards early detection and precise medicine. Interleukin 37 (IL-37), a natural inhibitor of innate immunity, was shown to be a key modulator in RA. Plasma levels were deregulated and correlated with disease activity. Therefore, we hypothesized the IL-37 gene variants could influence the clinical characteristics of RA patients.

OBJECTIVE

This is a pilot study to assess the association of rs3811047 variant of IL-37 gene with RA development and disease activity in an Egyptian population.

METHODS

A total of 100 individuals (50 RA patients and 50 healthy individuals) were enrolled in the study. Disease activity score of 28 joints (DAS28) was estimated for RA patients. Genotyping was performed using Real-Time PCR technology.

RESULTS

There was no statistically significant association between genotype frequencies of rs3811047 and RA risk. However, there was a significant relationship between the studied single nucleotide polymorphism (SNP) and disease activity. Patients carrying the GG genotype had higher DAS28 score than patients with AA or AG genotypes (p = .041).

CONCLUSION

IL-37 gene rs3811047 SNP was associated with more severe RA disease activity in the current population. Larger epidemiological study is warranted to validate our results.

摘要

背景

类风湿关节炎(RA)是一种具有高发病率的关节破坏性疾病。阐明导致这种疾病的遗传决定因素将为早期发现和精准医学铺平道路。白细胞介素 37(IL-37)是先天免疫的天然抑制剂,被证明是 RA 的关键调节剂。其血浆水平失调,并与疾病活动度相关。因此,我们假设 IL-37 基因变异可能影响 RA 患者的临床特征。

目的

本研究旨在评估 IL-37 基因 rs3811047 变异与埃及人群 RA 发病和疾病活动的相关性。

方法

共纳入 100 名个体(50 名 RA 患者和 50 名健康个体)参与本研究。对 RA 患者进行 28 关节疾病活动评分(DAS28)评估。采用实时 PCR 技术进行基因分型。

结果

rs3811047 基因型频率与 RA 风险之间无统计学显著关联。然而,该研究的单核苷酸多态性(SNP)与疾病活动之间存在显著关系。与 AA 或 AG 基因型相比,携带 GG 基因型的患者 DAS28 评分更高(p=0.041)。

结论

在当前人群中,IL-37 基因 rs3811047 SNP 与更严重的 RA 疾病活动度相关。需要进行更大规模的流行病学研究来验证我们的结果。

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