Impact of the IL18 −137 G/C (rs187238) polymorphism on susceptibility and clinical manifestations in women systemic lupus erythematosus

IF 1.5 Q4 RHEUMATOLOGY

Reumatologia Clinica Pub Date : 2025-11-01 Epub Date: 2025-10-15 DOI:10.1016/j.reuma.2025.501972

Danton Magri , Clisten Fátima Staffen , Ticiana Della Justina Farias , Ilíada Rainha de Souza , Yara Costa Netto Muniz , Ivânio Alves Pereira , Lia Kubelka de Carlos Back , Luciano Santos Pinto Guimarães , Juliana Dal-Ri Lindenau

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Abstract

Introduction and objectives

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by the production of autoantibodies, inflammation processes, and tissue damage. There are several genetic factors associated with the disease, many of them single nucleotide polymorphisms (SNPs). Interleukin-18 is a pro-inflammatory cytokine encoded by the IL18 gene, and the SNP −137 G/C (rs187238) has been studied in several populations. This case control study analyzed whether rs187238 is associated with SLE susceptibility and its clinical manifestations in a Brazilian population.

Materials and methods

153 patients fulfilling the American College of Rheumatology classification criteria for SLE were recruited, as well as 147 controls. Genotyping was performed by sequence-specific polymerase chain reaction (SSP-PCR). To assess SLE susceptibility a logistic regression test was conducted. Clinical aspects were tested through Poisson regression and clustered by Principal Component Analysis.

Results

An association between the rs187238*C_ carriers genotypes and SLE was found, these genotypes were associated with a 127% increased chance of developing the disease (OR = 2.27, 95% CI = 1.32–3.98, p = 0.003). The *C_ genotypes were also associated with photosensitivity (PR = 1.39, 95% CI = 1.1–1.8, p = 0.017), malar rash (PR = 1.37, 95% CI = 1.1–1.8, p = 0.014) and Raynaud phenomenon (PR = 1.37, 95% IC = 1.1–1.8, p = 0.015).

Discussion and conclusions

These findings suggest the potential of rs187238 as a genetic marker for SLE risk and clinical stratification in admixed Latin American populations.

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IL18−137 G/C （rs187238）多态性对女性系统性红斑狼疮易感性和临床表现的影响

系统性红斑狼疮（SLE）是一种以自身抗体产生、炎症过程和组织损伤为特征的慢性自身免疫性疾病。有几个遗传因素与该病有关，其中许多是单核苷酸多态性（snp）。白细胞介素-18是一种由il -18基因编码的促炎细胞因子，SNP - 137 G/C （rs187238）已在多个人群中进行了研究。本病例对照研究分析了rs187238是否与巴西人群SLE易感性及其临床表现相关。材料和方法：153例符合美国风湿病学会SLE分类标准的患者和147例对照。采用序列特异性聚合酶链反应（SSP-PCR）进行基因分型。为了评估SLE易感性，进行了逻辑回归检验。临床方面通过泊松回归和主成分分析聚类进行检验。结果rs187238*C_携带者基因型与SLE存在相关性，其发病几率增加127% （OR = 2.27, 95% CI = 1.32 ~ 3.98, p = 0.003）。*C_基因型还与光敏（PR = 1.39, 95% CI = 1.1 ~ 1.8, p = 0.017）、颧部皮疹（PR = 1.37, 95% CI = 1.1 ~ 1.8, p = 0.014）、雷诺现象（PR = 1.37, 95% IC = 1.1 ~ 1.8, p = 0.015）相关。讨论和结论这些发现提示rs187238可能作为拉丁美洲混合人群SLE风险和临床分层的遗传标记。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Reumatologia Clinica RHEUMATOLOGY-

CiteScore

2.40

自引率

6.70%

发文量

105

审稿时长

54 days

期刊介绍： Una gran revista para cubrir eficazmente las necesidades de conocimientos en una patología de etiología, expresividad clínica y tratamiento tan amplios. Además es La Publicación Oficial de la Sociedad Española de Reumatología y del Colegio Mexicano de Reumatología y está incluida en los más prestigiosos índices de referencia en medicina.