CARD8 SNP rs11672725 Identified as a Potential Genetic Variant for Adult-Onset Still's Disease.

ABSTRACT: Adult-onset Still's disease (AOSD), an autoinflammatory disorder, is related to the dysregulation of NLR3-containing a pyrin domain (NLRP3)-inflammasome signaling. We aimed to investigate the associations of genetic polymorphisms of NLRP3-inflammasome signaling with AOSD susceptibility and outcome and to examine their functional property. Fifty-three candidate single-nucleotide polymorphisms (SNPs) involved in NLRP3-inflammasome response were genotyped using Sequenom MassArray on the samples from 66 AOSD patients and 128 healthy controls. The significant SNPs were validated by direct sequencing using a TaqMan SNP analyzer. Serum levels of associated gene products were examined by ELISA. One SNP rs11672725 of CARD8 gene was identified to be significantly associated with AOSD susceptibility

SUBMITTER: Hung WT 

PROVIDER: S-EPMC8146669 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature