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NOD-like receptor family pyrin domain containing 3 (rs10754558) gene polymorphism in chronic spontaneous urticaria: A pilot case-control study

Year: 2025
Type: article
Study design: Observational Study
Abstract: BACKGROUND: Chronic spontaneous urticaria (CSU) is a persistent skin condition with no known cause or trigger. The unpredictability of CSU attacks lowers patients' quality of life. NOD-like receptor pyrin domain containing 3 (NLRP3) gene dysregulation can result in numerous immunological and inflammatory diseases. OBJECTIVE: This case-control study aimed to determine the association between the NLRP3 inflammasome (rs10754558) single nucleotide polymorphism (SNP) and the occurrence, severity and etiology of CSU. METHODS: Each study group included 62 participants; all were subjected to CSU severity evaluation by the urticaria activity score (UAS), autologous serum skin testing (ASST) and NLRP3 (rs10754558) genotyping. RESULTS: The NLRP3 (rs10754558) CG genotype was the most predominant in both study groups, followed by the CC genotype (41.9 %) in the CSU group and the GG genotype (25.8 %) in the control group. Most of the CSU group (66.1 %) had the C allele, compared to most controls (53.2 %) with the G allele. The frequency of NLRP3 (rs10754558) genotypes and alleles did not differ significantly according to the severity of CSU by UAS (P > 0.05). The prevalence of the CC genotype was significantly higher among the ASST-positive CSU patients. The C allele elevated the likelihood of positive ASST in CSU patients by 21 times, suggesting the autoimmune theory of CSU. None of the ASST-positive patients had the GG genotype. CONCLUSION: The NLRP3 inflammasome (rs10754558) C allele may be associated with CSU risk but not severity by UAS. It may also be associated with ASST positivity which suggests a connection between the C-allele and the autoimmune notion of CSU.
Language: English
Subfield: Rheumatology
Field: Medicine
Open Access status: gold
Estimated APC paid: $2,840
OpenAlex ID: W4406309119
FWCI: 1.25
Cites: 39
Cited by: 2
Related to: 10