A role of danger signal response gene NLRP3 for the genetic predisposition to systemic rheumatic diseases

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To examine whether the polymorphisms in NLRP3 gene play a role in the genetic predisposition to autoimmune rheumatic diseases, association study was performed for 16 tagSNPs of NLRP3 on 741 Japanese patients with systemic lupus erythematosus (SLE) and 916 healthy controls. Increased frequency of rs1539019A/A genotype, rs4925650A allele and A/A genotype was detected in SLE with renal disorder. rs4925650A/A genotype was also associated with dsDNA antibody positive SLE. eQTL analysis indicated association between decreased NLRP3 mRNA level in T cells and rs1539019A/A. Significant association of these SNPs with systemic sclerosis and ANCA associated vasculitis was not detected. These results suggested association of NLRP3polymorphisms with clinical phenotypes of SLE.