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Activation and Measurement of NLRP3 Inflammasome Activity Using IL-1β in Human Monocyte-derived Dendritic Cells
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Inflammasome Gene Polymorphisms (NLRP3 and NLRC4) and Vitamin D Status in Patients with Multiple Sclerosis

Concetta Scazzone1, Luisa Agnello1,2, Caterina Maria Gambino1,2

  • 1Department of Biomedicine, Neurosciences and Advanced Diagnostics, Institute of Clinical Biochemistry, Clinical Molecular Medicine, and Clinical Laboratory Medicine, University of Palermo, 90127 Palermo, Italy.

International Journal of Molecular Sciences
|June 12, 2026
PubMed

Insights

Genetic variants in the NLRP3 inflammasome pathway may influence multiple sclerosis (MS) risk. Specific NLRP3 gene variations are linked to lower vitamin D levels in MS patients, suggesting a connection to disease susceptibility.

Area of Science:

  • Neuroimmunology
  • Genetics
  • Immunometabolism

Background:

  • Multiple Sclerosis (MS) is a complex neuroinflammatory disease influenced by genetic and environmental factors.
  • The inflammasome pathway is implicated in MS pathophysiology, but its interaction with genetic variants and vitamin D is not well understood.
  • Vitamin D deficiency is common in MS patients and may play a role in disease modulation.

Purpose of the Study:

  • To investigate the association between inflammasome-related genetic variants (NLRP3, NLRC4) and multiple sclerosis (MS) susceptibility.
  • To examine the relationship between these genetic variants and serum 25-hydroxyvitamin D3 (25(OH)D3) levels in MS patients.
  • To explore correlations between genetic polymorphisms, vitamin D levels, and clinical MS disease parameters.

Main Methods:

  • Genotyping of NLRP3 (rs10754558, rs3806265) and NLRC4 (rs479333) polymorphisms in 105 MS patients and 109 healthy controls using real-time PCR.
  • Quantification of serum 25(OH)D3 levels via high-performance liquid chromatography.
  • Assessment of clinical MS severity using Expanded Disability Status Scale (EDSS), Multiple Sclerosis Severity Score (MSSS), annualized relapse rate (ARR), and age at onset.

Main Results:

  • MS patients exhibited significantly lower serum 25(OH)D3 levels compared to controls.
  • The NLRP3 rs10754558 GG genotype was more frequent in MS patients (recessive model) and associated with disease status.
  • Individuals with the NLRP3 rs10754558 GG genotype had lower serum 25(OH)D3 levels, independent of sex; no significant associations for other variants or clinical parameters were found.

Conclusions:

  • The NLRP3 rs10754558 polymorphism may contribute to MS susceptibility and is associated with reduced circulating vitamin D levels.
  • This finding suggests a potential link between inflammasome genetic variability and immunometabolic dysregulation in the context of MS.
  • Further research is warranted to elucidate the precise mechanisms underlying this association and its clinical implications.
Keywords:
inflammasomesmultiple sclerosisneuroinflammatory diseasespyrin domain-containing 3 proteinvitamin D

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