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

ABSTRACT

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
• juvenile systemic lupus eryhtematosus
• NLRP3
• polymorphism

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

The research reported in this publication was supported by Elite Researcher Grant Committee under award number 996055 from the National Institute for Medical Research Development (NIMAD), Tehran, Iran.