|
rs61752717
|
|
|
0.100 |
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 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recurrent abdominal pain and arthritis/arthralgia were commonly observed in patients with M694V and R202Q mutations.
|
30284126 |
2019 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Children homozygous for the M694V mutation presented at a younger age, had a higher severity score, and more commonly had arthritis.
|
12508410 |
2003 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
M694V genotype seems to be more frequently associated with arthritis as well as with chronic arthritis than other genotypes.
|
28828621 |
2018 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Significant increase in abdominal pain and arthritis was found in patients with homozygote M694V mutation compared to those with E148Q mutation.
|
19777236 |
2010 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Fever and arthritis were determined in similar ratios to other genotypes (76% and 19%, respectively) in the M694V/M694V genotype (74% and 29%, respectively) (p > 0.50 and p > 0.20, respectively).
|
20373849 |
2010 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The homozygosity of M694V mutation in the MEFV gene is associated with arthritis in FMF patients.
|
14727057 |
2005 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The presence of M694V was found to be associated with more severe course of FMF, earlier age of onset and more frequent arthritis in the Syrian children with FMF compared to other FMF patients who do not have this mutation.
|
25150514 |
2015 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Arthritis patterns in familial Mediterranean fever patients and association with M694V mutation.
|
20845072 |
2011 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
FMF patients heterozygous for E148Q mutation, heterozygous for M694I mutation, or combined heterozygous for E148Q and M694I mutations, which were found to be major mutations in an FMF study group in Japan, suffer from arthritis, the severity of which is likely to be lower than in FMF patients with M694V mutations.
|
24318677 |
2014 |
|
rs61752717
|
|
|
0.100 |
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 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Arthralgia or arthritis was significantly higher in M694V carriers than in non-M694V carriers (p < 0.05).
|
18300119 |
2008 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The age of disease onset was earlier, and arthritis and ELE were more frequent, and DSS was higher in patients with M694V/M694V mutation.
|
19641922 |
2010 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The presence of a homozygous M694V mutation was significantly associated with a more severe form of the disease: the clinical onset of the disease manifested at an earlier age; the number of attacks per month was higher; the global assessment by the treating physician and the severity of pain scored higher; and arthritis was more frequent.
|
10224214 |
1999 |
|
rs1800562
|
|
|
0.080 |
GeneticVariation |
BEFREE |
There was no association between the presence of HFE mutations and the prevalence of self-reported, doctor-diagnosed arthritis (C282Y/wild type (WT) adjusted OR = 1.041 (95% confidence interval (CI) 0.68-1.61), H63D/WT OR = 0.76 (95% CI 0.53-1.08), C282Y/C282Y OR = 0.39 (95% CI 0.04-3.63), C282Y/H 63D OR = 0.808 (95% CI 0.27-2.42), H63D/H63D OR = 0.419 (95% CI 0.13-1.36)).
|
16638105 |
2006 |
|
rs1800562
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The 124 C282Y homozygotes who filled out the written questionnaire and the 17 C282Y homozygotes who completed the physician double-blind interview reported no significantly higher rates of arthritis or joint pain, abdominal pain, arrhythmias, darkening of skin, or other symptoms traditionally associated with hemochromatosis compared with the 22,429 wild-type controls who filled out the written questionnaire and 29 wild-type controls who completed the double-blind interview.
|
12059121 |
2002 |
|
rs1800562
|
|
|
0.080 |
GeneticVariation |
BEFREE |
All previously undiagnosed C282Y homozygotes (35 male, 67 female) and all HFE wild-types (131 male, 160 female) with baseline and follow-up SF concentrations <1000 microg/L were assessed for HH-associated signs and symptoms including abnormal second/third metacarpophalangeal joints (MCP2/3), raised liver enzymes, hepatomegaly, and self-reported liver disease, fatigue, diabetes mellitus, and use of arthritis medication.
|
20583211 |
2010 |
|
rs1800562
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Hereditary hemochromatosis (HH) is a genetic disease associated with iron overload, in which individuals homozygous for the mutant C282Y HFE associated allele are at risk of developing liver disease, diabetes and arthritis.
|
17904763 |
2008 |
|
rs1800562
|
|
|
0.080 |
GeneticVariation |
BEFREE |
These data suggest that most of the C282Y homozygotes occurred in this arthritis group by chance and that their arthritis was incidental to their HFE genotype.
|
11886966 |
2002 |
|
rs1800562
|
|
|
0.080 |
GeneticVariation |
BEFREE |
In Northern-European ancestry populations, HFE gene C282Y mutations are relatively common (0.3%-0.6% rare homozygote prevalence) and associated with excessive iron absorption, fatigue, diabetes, arthritis, and liver disease, especially in men.
|
30657865 |
2019 |
|
rs1800562
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Male C282Y homozygotes with a serum ferritin level of 1000 mug per liter or more were more likely to report fatigue, use of arthritis medicine, and a history of liver disease than were men who had the wild-type gene.
|
18199861 |
2008 |
|
rs1800562
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The observed C282Y allele frequency in rheumatic patients with undifferentiated arthritis was 12.9 and exceeded that of healthy subjects (p = 0.01).
|
15789881 |
2005 |
|
rs755622
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A second MIF promoter polymorphism comprises a G-to-C single nucleotide polymorphism (SNP) at position -173 (rs755622), which is in strong linkage disequilibrium with -794 7-CATT and is associated with arthritis clinical severity and higher serum and synovial fluid MIF levels.
|
31745872 |
2020 |
|
rs755622
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A significantly lower frequency of the G allele of rs755622 was observed in the oral aphthae, genital ulceration, hypopyon, and arthritis subgroups compared with controls (P(c) < 0.05).
|
22939113 |
2012 |
|
rs755622
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Single nucleotide polymorphism (SNP) -173 G/C (rs755622) on <i>MIF</i> gene has been associated with numerous diseases, such as arthritis and cancer.
|
29545822 |
2018 |