Study of NLRP3 Single Nucleotide Polymorphisms in Juvenile Systemic Lupus Erythematosus (JSLE)

Immunol Invest. 2023 Nov;52(5):598-615. doi: 10.1080/08820139.2023.2215280. Epub 2023 Jun 1.


Juvenile systemic lupus erythematosus (JSLE) is a multifaceted multifactorial disorder with an unclear etiopathogenesis. Environmental factors, genetic factors, and dysregulated and defective immune system responses are known to have a role in JSLE etiopathogenesis. NLRP3 inflammasome, as an important contributor to immune-mediated inflammatory responses, is assumed to be involved in JSLE etiopathogenesis. To determine whether the NLRP3 genetic variants are altered in patients with JSLE. Fifty-three patients diagnosed with JSLE and 56 healthy sex-matched controls were studied. NLRP3 (C/G rs10754558, C/T rs3806265, C/T rs4612666, A/C rs35829419) gene polymorphisms were evaluated using a TaqMan single-nucleotide polymorphism assay. C allele at position rs3806265 was detected in higher frequencies in patients than in the control group (37.74% vs 23.21%, P-value = .028). At the genotype level at the same position, CT has a significantly higher frequency in patients than the healthy subjects (75.47% vs 46.43%, P-value = .003). The NLRP3 rs3806265 CT genotype was detected at a higher frequency in patients with JSLE than in the healthy control group.

Keywords: Inflammasome; JSLE; NLRP3; juvenile systemic lupus eryhtematosus; polymorphism.

MeSH terms

  • Case-Control Studies
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Humans
  • Lupus Erythematosus, Systemic* / genetics
  • NLR Family, Pyrin Domain-Containing 3 Protein / genetics
  • Polymorphism, Single Nucleotide


  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLRP3 protein, human