|
AA amyloidosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
The M694V homo</span>zygosity and heterozygosity were associated with increased risk of AA amyloidosis, but this association did not reach statistical significance (odds ratio 2.43; 95 % CI 0.87-6.76, and 3.33; 0.91-12.1, respectively).
|
25586652 |
2015 |
|
AA amyloidosis
|
|
0.030 |
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 |
|
AA amyloidosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
MEFV mutation was M694V homozygous or compound heterozygous in 52%, and simple heterozygous in 18%.Six patients had AA amyloidosis.
|
27838405 |
2017 |
|
Abdominal Pain
|
|
0.010 |
GeneticVariation
|
BEFREE |
M694V gene mutation may be associated with increased frequency of abdominal pain, arthritis and the presence of amyloidosis.
|
19777236 |
2010 |
|
Abnormality of the anterior fontanelle
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Acute myocardial infarction
|
|
0.010 |
GeneticVariation
|
BEFREE |
After adjustment for well-recognized AMI risk factors, the M694V allele still predicted a significant risk to develop AMI.
|
16387839 |
2006 |
|
Acute orchitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Acute orchitis and protracted febrile myalgia as rare clinical findings were more common in M694V homozygotes.
|
22057232 |
2012 |
|
Alzheimer Disease, Early Onset
|
|
0.010 |
GeneticVariation
|
BEFREE |
The M694V variant of the familial Mediterranean fever gene is associated with sporadic early-onset Alzheimer's disease in an Italian population sample.
|
17090974 |
2007 |
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our data indicate that the M694V sequence variant in the pyrin gene might influence the age at onset of AD in the Italian population.
|
17090974 |
2007 |
|
Amyloid nephropathy
|
|
0.060 |
GeneticVariation
|
BEFREE |
All 12 common mutations in the MEFV gene were analyzed and the M694V variant was found to be associated with an adverse FMF clinical outcome in the Armenian-American population, manifested by earlier onset of disease, increased severity of disease, and renal amyloidosis.
|
23038988 |
2013 |
|
Amyloid nephropathy
|
|
0.060 |
GeneticVariation
|
BEFREE |
Differences in clinical expression have been attributed to MEFV-allelic heterogeneity, with the M694V/M694V genotype associated with a high prevalence of renal amyloidosis.
|
11017802 |
2000 |
|
Amyloid nephropathy
|
|
0.060 |
GeneticVariation
|
BEFREE |
Logistic regression analysis showed that homozygosity for the M694V allele (odds ratio [OR] 4.27, 95% confidence interval [95% CI] 2.01-9.07), the presence of the SAAalpha/alpha genotype (OR 2.99, 95% CI 1.47-6.09), the occurrence of arthritis attacks (OR 2.43, 95% CI 1.17-5.06), and male sex (OR 1.73, 95% CI 0.90-3.33) were significantly and independently associated with renal amyloidosis.
|
12687559 |
2003 |
|
Amyloid nephropathy
|
|
0.060 |
GeneticVariation
|
BEFREE |
Indeed, the SAA1 alpha homozygous genotype and the p.Met694Val homozygous genotype at the MEFV locus are two main risk factors for RA.
|
19888326 |
2009 |
|
Amyloid nephropathy
|
|
0.060 |
GeneticVariation
|
BEFREE |
The M694V homozygous genotype was found to be associated with a higher prevalence of renal amyloidosis and arthritis, compared with other genotypes (P=.0002 and P=.006, respectively).
|
10364520 |
1999 |
|
Amyloid nephropathy
|
|
0.060 |
GeneticVariation
|
BEFREE |
Homozygotes for the M694V mutation and the complex V726A-E148Q allele are the most severely affected and often endure renal amyloidosis.
|
11938447 |
2002 |
|
Amyloidosis
|
|
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 |
|
Amyloidosis
|
|
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 |
|
Amyloidosis
|
|
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 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two patients with amyloidosis had the M694V homozygote genotype.
|
24071932 |
2014 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Only patients with the M694V mutation had a family history of amyloidosis.
|
10224214 |
1999 |
|
Amyloidosis
|
|
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 |
|
Amyloidosis
|
|
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 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Therefore, patients homozygous for M694V/M694V may be carrying an increased risk for development of amyloidosis.
|
20008920 |
2010 |
|
Amyloidosis
|
|
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 |
|
Amyloidosis
|
|
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 |