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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 (zeige NLRP3 Proteine) 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 (zeige P2RX7 Proteine) and CARD8 genotype combination was shown to have an increased trend for the risk of gout.
The NLRP3 (zeige NLRP3 Proteine) 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 (zeige IL1B Proteine) and CD14 (zeige NDUFA2 Proteine).
The polymorphism of rs2043211 in CARD8 may be a relevant host susceptibility factor for the development of preeclampsia in the Chinese Han population.
A novel association between CARD8 and increased risk of surgical recurrence in Crohn's disease was observed and CARD8 could be a new marker for risk stratification and prevention of recurrent surgery.
Patients carrying genotype TT of CARD8 rs2043211 polymorphism had higher triglycerides levels compared to those carrying the AA genotype.
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