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Our results showed that rs10754558 NLRP3 (show NLRP3 Proteins) and rs2043211 CARD8 polymorphisms are associated with rheumatoid arthritis development (p value = 0.044, OR = 1.77, statistical power = 0.999) and severity measured by Health Assessment Questionnaire (HAQ) (p value = 0.03), respectively.
this study found that the AT genotype of CARD8 (rs2043211) was significantly higher compared to TT genotype in high and intermediate risk chronic myeloid leukemia (show BCL11A Proteins) patients
Review/Meta-analysis: CARD8 p.C10X SNP were not associated with the susceptibility to rheumatoid arthritis.
these results identify a new CARD8 variant associated with periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis, and further suggest that disruption of the interaction between CARD8 and NLRP3 (show NLRP3 Proteins) can regulate autoinflammation in patients
The over expression of CARD8 due to higher promoter activity of the TT genotype may result in a dramatically inflammatory immune response and then increase the susceptibility to Arteriosclerosis Obliterans.
High CARD8 expression is associated with malignant melanoma.
The CARD8 rs2043211 genetic variants was not implicated in the development of gout in the male Korean population. However, we found that in a pair-wise comparison of the CA/TT P2X7R (show P2RX7 Proteins) and CARD8 genotype combination was shown to have an increased trend for the risk of gout.
The NLRP3 (show NLRP3 Proteins) rs10754558 gene polymorphism was significantly associated with the occurrence of CAD, while the CARD8 rs2043211 gene polymorphism was not involved.
In patients with ileal, stenotic or fistulizing Crohn's disease, the mutant-type CARD8 rs2043211 polymorphism may generate a potentially protective effect. (Meta-analysis)
There is evidence for association of gout with functional variants in CARD8, IL1B (show IL1B Proteins) and CD14 (show NDUFA2 Proteins).
The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene.
caspase recruitment domain family, member 8
, CARD inhibitor of NF-kappaB-activating ligands
, apoptotic protein NDPP1
, caspase recruitment domain-containing protein 8
, tumor up-regulated CARD-containing antagonist of CASP9
, tumor up-regulated CARD-containing antagonist of caspase nine