|
rs2476601
|
|
Rheumatoid Arthritis
|
|
1.000 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs2004640
|
|
Rheumatoid Arthritis
|
T |
0.790 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs3087456
|
|
Rheumatoid Arthritis
|
G |
0.780 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
rs2240340
|
|
Rheumatoid Arthritis
|
C |
0.770 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs3766379
|
|
Rheumatoid Arthritis
|
C |
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
rs1566328963
|
|
Rheumatoid Arthritis
|
A |
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
rs1557787212
|
|
Rheumatoid Arthritis
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs1057523354
|
|
Rheumatoid Arthritis
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs231775
|
|
Rheumatoid Arthritis
|
|
0.060 |
GeneticVariation
|
BEFREE |
We have studied the distribution of the CTLA4 exon 1 polymorphism (49 A/G) in rheumatoid arthritis.
|
9459504 |
1998 |
|
rs17879469
|
|
Rheumatoid Arthritis
|
|
0.020 |
GeneticVariation
|
BEFREE |
We have studied the distribution of the CTLA4 exon 1 polymorphism (49 A/G) in rheumatoid arthritis.
|
9459504 |
1998 |
|
rs63750306
|
|
Rheumatoid Arthritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
To learn about the significance of PS1 in the differentiation of neuronal cells, we established NTera 2 (NT2) cell lines stably expressing wild-type (wt) or M146V mutant human PS1, and compared the differentiation of both types of cell lines into postmitotic neurons upon retinoic acid (RA) treatment.
|
9535737 |
1998 |
|
rs231775
|
|
Rheumatoid Arthritis
|
|
0.060 |
GeneticVariation
|
BEFREE |
Cytotoxic T-lymphocyte antigen 4 (CTLA4) polymorphisms located in the promotor region at positions -318 (C/T) and in exon 1 (49 A/ G) were investigated in 138 Spanish patients (37 men and 101 women) with rheumatoid arthritis and in 305 ethnically-matched healthy controls.
|
10203024 |
1999 |
|
rs17879469
|
|
Rheumatoid Arthritis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Cytotoxic T-lymphocyte antigen 4 (CTLA4) polymorphisms located in the promotor region at positions -318 (C/T) and in exon 1 (49 A/ G) were investigated in 138 Spanish patients (37 men and 101 women) with rheumatoid arthritis and in 305 ethnically-matched healthy controls.
|
10203024 |
1999 |
|
rs397516436
|
|
Rheumatoid Arthritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Low levels of bax promoter activity were detected in HS68 cells co-transfected with bax-luc and empty vector, N239S, or R213*, indicating that the RA mutants lacked transcriptional activity.
|
10366100 |
1999 |
|
rs17235409
|
|
Rheumatoid Arthritis
|
|
0.030 |
GeneticVariation
|
BEFREE |
Three NRAMP1 polymorphisms (823C/T, D543N and 1729+55del4) were significantly associated with RA.
|
10719815 |
2000 |
|
rs1799945
|
|
Rheumatoid Arthritis
|
|
0.020 |
GeneticVariation
|
BEFREE |
H63D mutation appears to play a role in pathogenesis of RA.
|
10990216 |
2000 |
|
rs1800562
|
|
Rheumatoid Arthritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The prevalence of C282Y mutation in patients with RA was the same as in healthy controls.
|
10990216 |
2000 |
|
rs121912656
|
|
Rheumatoid Arthritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
G245D mutation might especially need further study as it is the first recurrently identified p53 mutation in RA and is also one of the frequently identified mutations in human cancers.
|
10788533 |
2000 |
|
rs1217691063
|
|
Rheumatoid Arthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The C677T mutation is the first identified genetic risk factor for elevated alanine aminotransferase values during MTX treatment in patients with RA.
|
11710708 |
2001 |
|
rs1799969
|
|
Rheumatoid Arthritis
|
|
0.030 |
GeneticVariation
|
BEFREE |
Our preliminary findings show that G/R 241 polymorphism of ICAM-1 is associated with RA, and that this confers a reduced risk of extra-articular manifestations and is associated with a slow rate of joint destruction.
|
11072593 |
2001 |
|
rs1217691063
|
|
Rheumatoid Arthritis
|
|
0.100 |
GeneticVariation
|
BEFREE |
To study (i) the influence of methotrexate (MTX) therapy on homocysteine and folate metabolism in patients with rheumatoid arthritis (RA), (ii) the influence of the C677T mutation in the methylenetetrahydrofolate reductase gene (MTHFR) on the change in plasma homocysteine levels during MTX treatment, and (iii) the interference of folate and homocysteine metabolism with the efficacy and toxicity of treatment with MTX.
|
12048292 |
2002 |
|
rs4149584
|
|
Rheumatoid Arthritis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Lastly, we have summarized data that R92Q and P46L, and probably as yet undiscovered substitutions, represent very low penetrance mutations that may play a much larger role in more broadly defined inflammatory diseases such as rheumatoid arthritis.
|
12352631 |
2002 |
|
rs1800450
|
|
Rheumatoid Arthritis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Point mutations in the collagen-like domain (R32C, G34D, or G37E) of MBL cause a serum deficiency, predisposing patients to infections and diseases such as rheumatoid arthritis.
|
11891230 |
2002 |
|
rs1050501
|
|
Rheumatoid Arthritis
|
|
0.020 |
GeneticVariation
|
BEFREE |
This study was performed to examine whether FCGR2B-I232T was associated with susceptibility to rheumatoid arthritis in the Japanese.
|
12486608 |
2002 |
|
rs781530030
|
|
Rheumatoid Arthritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Point mutations in the collagen-like domain (R32C, G34D, or G37E) of MBL cause a serum deficiency, predisposing patients to infections and diseases such as rheumatoid arthritis.
|
11891230 |
2002 |