|
rs1057519090
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1057523354
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs28936375
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
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 |
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 |
|
rs28940580
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Arthritis frequency was found to be lower in the patients with homozygous Met680Ile mutation.
|
10662876 |
2000 |
|
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 |
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 |
|
rs1416580204
|
|
|
0.010 |
GeneticVariation |
BEFREE |
RAGE and arthritis: the G82S polymorphism amplifies the inflammatory response.
|
12070776 |
2002 |
|
rs2070600
|
|
|
0.010 |
GeneticVariation |
BEFREE |
RAGE and arthritis: the G82S polymorphism amplifies the inflammatory response.
|
12070776 |
2002 |
|
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 |
Children homozygous for the M694V mutation presented at a younger age, had a higher severity score, and more commonly had arthritis.
|
12508410 |
2003 |
|
rs1061622
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To assess the association between the tumour necrosis factor receptor 2 (TNFR2) 196 M/R single-nucleotide polymorphism and rheumatoid arthritis (RA) severity by taking advantage of the extremes of phenotype that exist in arthritis.
|
15252214 |
2004 |
|
rs1477353313
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To assess the association between the tumour necrosis factor receptor 2 (TNFR2) 196 M/R single-nucleotide polymorphism and rheumatoid arthritis (RA) severity by taking advantage of the extremes of phenotype that exist in arthritis.
|
15252214 |
2004 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The homozygosity of M694V mutation in the MEFV gene is associated with arthritis in FMF patients.
|
14727057 |
2005 |
|
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 |
|
rs3743930
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Although four of the 26 patients with E148Q/E148Q were asymptomatic at the time of evaluation, abdominal pain was seen in 77% of the patients, fever in 66%, arthralgia in 50%, arthritis in 15.4%, and vomiting in 23.8%.
|
15458961 |
2005 |
|
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 |
|
rs1799945
|
|
|
0.010 |
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 |
|
rs3789604
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A total of 667 RA patients and 286 controls were genotyped for 13 PTPN22 single nucleotide polymorphisms (SNPs) by allele-specific kinetic polymerase chain reaction. rs3789604 was genotyped in an additional 410 RA and 270 UA patients participating in the Leiden early arthritis inception cohort.
|
17135225 |
2007 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Arthralgia or arthritis was significantly higher in M694V carriers than in non-M694V carriers (p < 0.05).
|
18300119 |
2008 |
|
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 |
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 |
|
rs5743708
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, compared with normal controls, one of the rare TLR-2 SNPs (rs5743708, R753Q) was associated with the development of arthritis and extraarticular features (P = 0.015 by chi-square test).
|
18975326 |
2008 |
|
rs1385889785
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that female sex, colonic involvement, and the AA genotype at -110 G>A were associated with increased risk of both subtypes of PA, although the association appears to be stronger for arthritis than for arthralgia.
|
19235910 |
2009 |