Amyloidosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
The chronic accumulation of inflammatory mediator in neuronal cells facilitates interactions of TXNIP-nucleotide binding oligomerization domain-like receptor family, pyrin domain containing 3 (NLRP3) and NLRP3-ASC, which increases β-amyloid (Aβ) secretion.
|
29634349 |
2019 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Aim of the study is to search for correlations between the MEFV genotype and the SAA polymorphisms with the clinical manifestations of FMF and the occurrence of amyloidosis in a large cohort of Armenian patients.
|
27791951 |
2017 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the MEFV gene-mediated inflammatory pathway increased serum acute phase reactants, and the changes in the R202Q and M694V could play a role in inflammatory-genetic diseases, such as FMF, FMF-associated amyloidosis and chronic periodontitis.
|
28590056 |
2017 |
Amyloidosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
The current results indicate the germ-line mutations in both genetic biomarkers (MEFV and SAA1 genes) that are related to inflammation and amyloidosis processes may play a crucial role in CRF pathogenesis due to the long-term chronic inflammation.
|
25394530 |
2015 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The medical records of the children with FMF were evaluated retrospectively for acute-phase response along with gender, age at the onset of symptoms and at the time of diagnosis, clinical signs and symptoms, the presence of amyloidosis and MEFV genotype.
|
25669438 |
2015 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Systemic-onset juvenile idiopathic arthritis complicated by early onset amyloidosis in a patient carrying a mutation in the MEFV gene.
|
20044784 |
2012 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
However, our data suggest that the MEFV gene mutations may not be a genetic factor affecting the susceptibility of RA or the development of amyloidosis in a Japanese population.
|
19210876 |
2009 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
So that we aimed in this study to investigate whether FMF patients with/without amyloidosis and with M694V homozygote mutation, have increased risk for atherosclerotic cardiovascular complications and to determine the strength of association between MEFV gene-mutation types.
|
19033264 |
2009 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The patients with incident amyloidosis were more likely to be older men, but younger at the time of disease onset, and more likely to have had a family history of amyloidosis and M694F mutation in the MEFV gene compared to patients without amyloidosis.
|
19797919 |
2009 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The M694V/M694V genotype was more common in patients with amyloidosis (37%) compared to patients without amyloidosis (18%) (p = 0.009).The frequency of MEFV carriers was 27%.
|
18061974 |
2008 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Though the effects of the MEFV genotypes seem clear, there are definitely other modifying factors or genes on the development of amyloidosis and on the course of the disease.
|
17102945 |
2007 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our study shows that the CD14-C159T polymorphism is not associated with FMF or development of amyloidosis in the population studied.
|
17187267 |
2007 |
Amyloidosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to examine the controversial issue of amyloidosis susceptibility in FMF by determining the relative contributions of MEFV and numerous epidemiologic factors to the risk of renal amyloidosis.
|
17469185 |
2007 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MEFV gene mutations cause familial Mediterranean fever in homozygotes, a disease associated with recurrent febrile inflammatory episodes, and death from renal failure and amyloidosis.
|
17005326 |
2007 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
When 694 M/V homozygous nonamyloid-FMF group was compared with 694 M/V carriers of the FMF-amyloidosis group, the difference was 0.049.
|
16874691 |
2006 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Fourteen MEFV mutations were screened and the SAA1 and MICA polymorphisms tested in 30 FMF patients with amyloidosis and 40 FMF patients without amyloidosis.
|
15018633 |
2004 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The E148Q variant of MEFV was present in two of the three patients with TNF receptor-associated periodic syndrome (TRAPS) complicated by amyloid in two separate multiplex TRAPS families containing 5 and 16 affected members respectively, and the single patient with Muckle-Wells syndrome who had amyloidosis was homozygous for this variant.
|
15071491 |
2004 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Familial Mediterranean fever with amyloidosis associated with novel exon 2 mutation (S1791) of the MEFV gene.
|
14636645 |
2004 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
M694V mutation in MEFV gene was suggested to be associated with severe clinical features and amyloidosis of FMF.
|
15122067 |
2004 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we analyzed the contribution of genotypes at the MEFV and SAA1 loci to disease severity and to the development of amyloidosis, and further defined the factors affecting the clinical profile of FMF.
|
12687559 |
2003 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The influence of FMF gene (MEFV) mutations and/or unknown environmental factors and other genetic modifiers are likely to affect the phenotypic variations of the disease and the development of amyloidosis.
|
12762136 |
2003 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Male sex coupled with articular manifestations cause a 4-fold increase in susceptibility to amyloidosis in patients with familial Mediterranean fever homozygous for the M694V-MEFV mutation.
|
12563686 |
2003 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In phenotype II amyloidosis patients, the distribution of the four common MEFV mutations was not significantly different from that found in all FMF patients with typical symptoms who do or do not develop amyloidosis.
|
12401847 |
2002 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In familial Mediterranean fever, the severity of the disease and the risk of renal amyloidosis are correlated with mutations in MEFV, and the serum amyloid-associated protein (SAA)1 alpha/alpha allele is a modifying factor for amyloidosis.
|
11544000 |
2001 |
Amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Amyloidosis is highly associated with the 694 substitution in the MEFV gene causing FMF.
|
11156548 |
2001 |