MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 298; N. variants: 32
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 Biomarker disease BEFREE Of the 27 articles, MASEI was mainly used for spondyloarthritis and related diseases in 12 (44%) articles, followed by both psoriatic arthritis and rheumatoid arthritis in five (19%) articles; however, it was also used in diseases such as Behçet disease, FM, familiar Mediterranean fever, SS, crystal arthropathies and systemic sclerosis. 31750519 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE We also discuss the possibility that MEFV mutations could modulate RA disease activity. 24661635 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE Nucleotide-binding, oligomerization domain (NOD)-like receptor family, pyrin domain containing 3 (NLRP3) gene polymorphism was reported to be associated with susceptibility, disease activity or anti-tumour necrosis factor (TNF) treatment response in rheumatoid arthritis (RA). 30277570 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE Mutations or SNPs in autoinflammatory genes including MEFV and NOD2 are linked to seronegative RA phenotypes including some so called palindromic RA cases. 30213700 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 Biomarker disease BEFREE Deregulation of the MEFV gene is likely to result in uncontrolled inflammation as observed in RA. 25730039 2015
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 Biomarker disease BEFREE Monocytes from patients with rheumatoid arthritis and type 2 diabetes mellitus display an increased production of interleukin (IL)-1β via the nucleotide-binding domain and leucine-rich repeat containing family pyrin 3(NLRP3)-inflammasome activation: a possible implication for therapeutic decision in these patients. 26095630 2015
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE A total of 1278 Caucasian patients with RA from the Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate (BRAGGSS) cohort receiving tumour necrosis factor (TNF) antagonists (infliximab, adalimumab and etanercept) were genotyped for 34 single nucleotide polymorphisms (SNPs), spanning the genes NLRP3, MEFV and CARD8. 23687262 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE The results of this study suggest that MEFV gene mutations are not positively associated with a predisposition to develop RA but might increase the severity of RA. 23360841 2013
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE We found an increased frequency of MEFV variants in AS patients as compared with healthy controls and with RA patient controls. 20533539 2010
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE Carrier rates of MEFV gene mutations were 26/103 (25.2%) and 24/103 (23.3%) in the RA and HC groups, respectively (p>0.05, OR: 0.9, 95% CI: 0.48-1.71). 20031469 2010
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE The presence of febrile episodes more than four per year, arthralgia, past diagnosis for acute rheumatic fever, rheumatoid arthritis and prophylaxis of penicillin, acute rheumatic fever, and rheumatoid arthritis were significantly higher in asymptomatic parents for the MEFV mutations compared to controls. 17067442 2007
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE 17/98 (17%) patients with RA (all women) were heterozygous for common MEFV mutations, predominantly E148Q (12 patients), and one patient was homozygous for the V726A mutation. 15958759 2005
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 Biomarker disease BEFREE To study the expression of cryopyrin, its effector molecule ASC, and its putative antagonist pyrin in RA and osteoarthritis (OA) synovium, and the main two cellular constituents of synovial lining, cultured fibroblast-like synoviocytes (FLS) and macrophages. 15498798 2005
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.100 GeneticVariation disease BEFREE Four of 67 patients with RA plus amyloidosis had MEFV variants compared with none of 34 RA patients without amyloid (P value=0.03). 15071491 2004