NLRP3 genetic variants and their impact on psoriasis susceptibility, severity, and risk of psoriatic arthritis

IF 2.1 4区 医学 Q3 IMMUNOLOGY
Human Immunology Pub Date : 2025-11-01 Epub Date: 2025-11-08 DOI:10.1016/j.humimm.2025.111610
Cássio Rafael Moreira , Camila Cataldi de Alcântara , Ligia Marcia Mario Martin , Marcell Alysson Batisti Lozovoy , Andréa Name Colado Simão , Edna Maria Vissoci Reiche
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引用次数: 0

Abstract

Psoriasis (PsO) is a chronic, immune-mediated inflammatory disease with systemic manifestations. Its etiology involves an interaction between genetic, immunologic, and environmental factors. The NLRP3 inflammasome plays a key role in innate immune responses and has been implicated in PsO pathogenesis. However, data regarding NLRP3 gene polymorphisms and their relationship with PsO, particularly in the Brazilian population, remain limited. The aim was to investigate the association between the NLRP3 rs10157379 and rs10754558 gene variants with susceptibility and severity of PsO, as well as the risk of developing psoriatic arthritis (PsA). A case-control study was conducted with 154 individuals with PsO and 154 healthy controls. Clinical and demographic data were collected, and genotyping of the NLRP3 rs10157379 T > C and rs10754558 G > C variants was performed using real-time polymerase chain reaction. No significant association was observed between either variant and PsO susceptibility or severity. However, the rs10754558 CG genotype was associated with a reduced likelihood of PsA [odds ratio (OR): 0.32; 95 % confidence interval (CI): 0.10–0.95, p = 0.041], while the GG genotype conferred a higher likelihood (OR: 3.26; 95 % CI:1.03–10.32, p = 0.044). No associations were identified for the rs10157379 variant. In conclusion, the NLRP3 rs10157379 and rs10754558 variants were not associated with PsO susceptibility or severity. However, the rs10754558 variant may influence the chance of joint involvement in individuals with PsO. These findings underscore the potential role of NLRP3 variants in PsA development and highlight the importance of genetic background in PsO pathophysiology.

Abstract Image

NLRP3基因变异及其对银屑病易感性、严重程度和银屑病关节炎风险的影响
牛皮癣(PsO)是一种慢性,免疫介导的炎症性疾病,具有全身性表现。其病因涉及遗传、免疫和环境因素的相互作用。NLRP3炎性小体在先天免疫应答中起关键作用,并与PsO发病机制有关。然而,关于NLRP3基因多态性及其与PsO关系的数据,特别是在巴西人群中,仍然有限。目的是研究NLRP3 rs10157379和rs10754558基因变异与PsO的易感性和严重程度以及患银屑病关节炎(PsA)的风险之间的关系。对154名PsO患者和154名健康对照者进行了病例对照研究。收集临床和人口统计学资料,采用实时聚合酶链反应对NLRP3 rs10157379 T >; C和rs10754558 G >; C变异进行基因分型。未观察到任何变异与PsO易感性或严重程度之间的显著关联。然而,rs10754558 CG基因型与PsA发生可能性降低相关[优势比(OR): 0.32;95%置信区间(CI): 0.10-0.95, p = 0.041),而GG基因型具有更高的可能性(OR: 3.26; 95% CI: 1.03-10.32, p = 0.044)。rs10157379变异未发现关联。总之,NLRP3 rs10157379和rs10754558变异与PsO易感性或严重程度无关。然而,rs10754558变异可能会影响PsO患者联合发病的机会。这些发现强调了NLRP3变异在PsA发展中的潜在作用,并强调了遗传背景在PsA病理生理中的重要性。
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来源期刊
Human Immunology
Human Immunology 医学-免疫学
CiteScore
5.40
自引率
7.40%
发文量
107
审稿时长
12 days
期刊介绍: The journal''s scope includes understanding the genetic and functional mechanisms that distinguish human individuals in their immune responses to allografts, pregnancy, infections or vaccines as well as the immune responses that lead to autoimmunity, allergy or drug hypersensitivity. It also includes examining the distribution of the genes controlling these responses in populations. Research areas include: Studies of the genetics, genomics, polymorphism, evolution, and population distribution of immune-related genes Studies of the expression, structure and function of the products of immune-related genes Immunogenetics of susceptibility to infectious and autoimmune disease, and allergy The role of the immune-related genes in hematopoietic stem cell, solid organ, and vascularized composite allograft transplant Histocompatibility studies including alloantibodies, epitope definition, and T cell alloreactivity Studies of immunologic tolerance and pregnancy T cell, B cell, NK and regulatory cell functions, particularly related to subjects within the journal''s scope Pharmacogenomics and vaccine development in the context of immune-related genes Human Immunology considers immune-related genes to include those encoding classical and non-classical HLA, KIR, MIC, minor histocompatibility antigens (mHAg), immunoglobulins, TCR, BCR, proteins involved in antigen processing and presentation, complement, Fc receptors, chemokines and cytokines. Other immune-related genes may be considered. Human Immunology is also interested in bioinformatics of immune-related genes and organizational topics impacting laboratory processes, organ allocation, clinical strategies, and registries related to autoimmunity and transplantation.
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