|
rs1136410
|
|
Refractory anemias
|
|
0.010 |
GeneticVariation
|
BEFREE |
The results of the study indicate that, for our Turkish sample, the V762A polymorphism of the PARP-1 may not be involved in susceptibility to RA, implying that the polymorphism may not function as a candidate gene marker for screening RA patients.
|
19030862 |
2009 |
|
rs12434439
|
|
Refractory anemias
|
|
0.010 |
GeneticVariation
|
BEFREE |
In RA patients with HIF-1A rs12434439 GG genotype, the parameters of disease activity such as DAS-28, VAS score, Larsen score or HAQ score were lower compared to RA patients with the HIF-1A rs12434439 AA genotype.
|
29411043 |
2018 |
|
rs1799945
|
|
Refractory anemias
|
|
0.010 |
GeneticVariation
|
BEFREE |
Among the 50 patients examined [26 refractory anemia (RA), 9 refractory anemia with ring sideroblasts (RARS), 2 refractory anemia with excess of blasts (RAEB) and 13 refractory anemia with excess of blasts in transformation (RAEB-t)] there were 24 heterozygotes (20 for H63D and 4 for C282Y), 1 homozygote for H63D and 1 compound heterozygote.
|
12624489 |
2003 |
|
rs1800562
|
|
Refractory anemias
|
|
0.010 |
GeneticVariation
|
BEFREE |
Among the 50 patients examined [26 refractory anemia (RA), 9 refractory anemia with ring sideroblasts (RARS), 2 refractory anemia with excess of blasts (RAEB) and 13 refractory anemia with excess of blasts in transformation (RAEB-t)] there were 24 heterozygotes (20 for H63D and 4 for C282Y), 1 homozygote for H63D and 1 compound heterozygote.
|
12624489 |
2003 |
|
rs2069705
|
|
Refractory anemias
|
|
0.010 |
GeneticVariation
|
BEFREE |
Finally, we verified higher IL-6 value in the RA patients than healthy control group (p = 0.007) and an association between high IL-6 levels and increased CDAI (r = 0.4648, p = 0.0015); DAS 28 (r = 0.3933, p= 0.0091), presence of bone erosions (r = 0.3170, p = 0.0361), ESR levels(r = 0.3041, p = 0.0448) and IFN-γ levels (r = 0.3049, p = 0.0468).Altogether, we suggest that IL10 -1082 (T>C, rs1800896) and INFG -1616(A>G, rs2069705) polymorphisms as well as IL-6 levels alterations may play a role for prognostic and disease follow-up.
|
31494241 |
2020 |
|
rs2476601
|
|
Refractory anemias
|
|
0.010 |
GeneticVariation
|
BEFREE |
To investigate genotype-phenotype correlation and gene-environment interaction between PTPN22 R620W environmental factors such as tobacco/hormonal treatments in an inception cohort of RA patients.
|
21752868 |
2011 |
|
rs4786370
|
|
Refractory anemias
|
|
0.010 |
GeneticVariation
|
BEFREE |
Therefore, we explored the influence of a promoter single nucleotide polymorphism (SNP) rs4786370 in IL-32 on clinical responsiveness to TNFi's in RA patients, potentially serving as new biomarker in RA.
|
30232372 |
2018 |
|
rs63750306
|
|
Refractory anemias
|
|
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 |
|
rs6920220
|
|
Refractory anemias
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our data replicate the association of rs6920220 with autoantibody-positive RA disease, although not for rs10499194.
|
19321514 |
2009 |
|
rs77375493
|
|
Refractory anemias
|
|
0.010 |
GeneticVariation
|
BEFREE |
Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis.
|
23594705 |
2013 |
|
rs80356682
|
|
Refractory anemias
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two infants, both homozygous for the Herlitz mutation R635X in the LAMB3 gene, who had refractory anemia and hypoproteinemia as a result of a continuous loss of body fluids through multiple large erosions, were treated with artificial skin bioequivalents.
|
12378197 |
2002 |