rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Amyloidosis was confirmed by renal biopsy in only two of these cases who were homozygous for M694V and compound heterozygous for M694V/M680I.
|
28828621 |
2018 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
M694V homozygocity, male gender and the alpha/alpha genotype of serum amyloid A1 gene are the currently established risk factors for development of amyloidosis.
|
16283319 |
2006 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
M694V gene mutation may be associated with increased frequency of abdominal pain, arthritis and the presence of amyloidosis.
|
19777236 |
2010 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
M694V was observed in severe disease and in patients with amyloidosis.
|
20151816 |
2010 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
M694V homozygosis is highly associated withal typical features of FMF and with amyloidosis.
|
27791951 |
2017 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A significant association was found between amyloidosis and the specific mutation at the MEFV gene: Met694Val (RR = 1.41, P = 0.02).
|
10234504 |
1999 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Earlier age at onset, increased frequency of attacks, arthritis attacks, erysipelas-like erythema, increased severity scores and amyloidosis were significantly more common in M694V homozygous patients compared to the patients not M694V homozygous (P = 0.005, OR 4.55; P = 0.001, OR 7.60; P = 0.003, OR 4.57; P = 0.002, OR 7.58; P = 0.004, OR 5.15 and P = 0.018, OR 3.33, respectively).
|
17102945 |
2007 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
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 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In both cases, S1791 was in compound heterozygosity with MEFV mutation M694V, and the characteristic clinical syndrome of FMF including amyloidosis was found.
|
14636645 |
2004 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In conclusion, we found a higher disease severity score and higher prevalence of amyloidosis in FMF patients who were M694V mutation carriers.
|
18266121 |
2008 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In the light of the high frequency of amyloidosis in homozygotes for the mutation M694V, colchicine treatment should be given to this group irrespective of the severity of the inflammatory attacks to prevent the development of amyloidosis.
|
10799634 |
2000 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Initial studies have suggested that the presence of the Met694Val mutation carry a significant risk for the development of amyloidosis.
|
11139244 |
2001 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
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 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
MEFV mutations are found to be increased both in FMF and non-FMF associated secondary amyloidosis in our study; however, no clear association between M694V and amyloidosis is observed, except in the non-FMF group.
|
15122067 |
2004 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Only patients with the M694V mutation had a family history of amyloidosis.
|
10224214 |
1999 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our data, combined with previous studies, show that patients having M694V/M694V carry a risk for amyloidosis.
|
18061974 |
2008 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Patients with FMF amyloidosis carried only M694V mutations in the FMF gene, while FMF without amyloidosis featured other mutations as well.
|
22675837 |
2012 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Positive family history for amyloidosis and presence of SAA1 alpha/alpha genotype in M694V/M694V mutation may predispose to amyloidosis by increasing the clinical severity.
|
16118480 |
2005 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
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 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Specifically, the data from our American series are insufficient to evaluate the hypothesis that the M694V/M694V genotype confers a more severe phenotype, or increases the risk of amyloidosis; but both our data and the recent literature (160) indicate that amyloidosis can occur in FMF patients with only 1 copy, or no copies, of the M694V mutation.
|
9715731 |
1998 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The M694V and V726A allelic frequencies were, respectively, significantly higher and lower in the group with amyloidosis, compared to the control FMF group.
|
15018633 |
2004 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The genotype-phenotype analysis showed a significant association (P < 0.001) between amyloidosis and the presence of mutations at codon 694 in exon 10 (both M694V and M694I).
|
11175300 |
2001 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The presence of the Met694Val mutation was not found to be associated with a severe form of the disease or the development of amyloidosis.
|
10662876 |
2000 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The severity of the disease and development of amyloidosis seem to have an association with M694V, the most common mutation in Syrian FMF patients.
|
16627024 |
2007 |
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Therefore, patients homozygous for M694V/M694V may be carrying an increased risk for development of amyloidosis.
|
20008920 |
2010 |