|
rs11209032
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Current study results support that functional STAT4 (rs7574865), IL23R (rs11209032), and STAT3 (rs744166) variants may associate with occurrence, severity, and immunosuppressive outcome of AA in the Han population in southwest China.
|
29330562 |
2018 |
|
rs1353528671
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Concerning TGFB1, although its polymorphisms are not related to AA susceptibility, P10L T allele (recessive model, OR = 0.18, p = .038) and CT haplotype (dominant model, OR = 5.68, p = .038) were associated with response to IST.
|
20953611 |
2011 |
|
rs10818488
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results indicated that TRAF1/C5 rs10818488 polymorphism might not contribute to susceptibility to AA in a Chinese population.
|
25500258 |
2015 |
|
rs231775
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The GG genotype of SNP rs231775 in CTLA-4 gene might be associated with AA risk in the Chinese population.
|
27036622 |
2016 |
|
rs231775
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This study indicates that the polymorphisms -318C > T and 49A > G of CTLA4 do not affect the risk of developing AA and do not influence the response to immunosuppression.
|
15812539 |
2005 |
|
rs1799945
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results suggest that H63D mutations may not have clinical significance in Chinese patients with MDS and AA.
|
20563578 |
2010 |
|
rs7574862
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated the distributions of TBX21 (T-1993C and T-1514C) and STAT4 (rs7574862) polymorphisms in 202 adult patients with AA and 195 healthy controls by polymerase chain reaction-restriction fragment length polymorphism.
|
22133489 |
2012 |
|
rs61754966
|
|
|
0.720 |
GeneticVariation |
BEFREE |
In earlier work, we had identified a remarkable number of structural chromosomal aberrations in a patient with pediatric aplastic anemia with a homozygous polymorphic variant of NBS1-I171V; however, it was unclear whether this variant affected DSB repair activity or chromosomal instability.
|
24830725 |
2014 |
|
rs61754966
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
|
|
|
|
rs61754966
|
|
|
0.720 |
GeneticVariation |
BEFREE |
This is the first report of AA with a homozygous I171V mutation.
|
15338273 |
2004 |
|
rs587782545
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs730881864
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs767215758
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs10204525
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In order to study the correlation between PD-1 gene polymorphism and aplastic anemia in a Chinese Han population, two SNPs, PD-1.1 G/A (rs36084323) and PD-1.6 G/A (rs10204525), were genotyped in 166 patients with aplastic anemia and 144 healthy controls by direct sequencing.
|
23373967 |
2013 |
|
rs36084323
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In order to study the correlation between PD-1 gene polymorphism and aplastic anemia in a Chinese Han population, two SNPs, PD-1.1 G/A (rs36084323) and PD-1.6 G/A (rs10204525), were genotyped in 166 patients with aplastic anemia and 144 healthy controls by direct sequencing.
|
23373967 |
2013 |
|
rs193302875
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1553284997
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs113993992
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs113993993
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs744166
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Current study results support that functional STAT4 (rs7574865), IL23R (rs11209032), and STAT3 (rs744166) variants may associate with occurrence, severity, and immunosuppressive outcome of AA in the Han population in southwest China.
|
29330562 |
2018 |
|
rs7574865
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The T allele (TT + TG genotypes) of STAT4 variant rs7574865 was associated with increased susceptibility of Chinese people to AA.
|
22133489 |
2012 |
|
rs7574865
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Current study results support that functional STAT4 (rs7574865), IL23R (rs11209032), and STAT3 (rs744166) variants may associate with occurrence, severity, and immunosuppressive outcome of AA in the Han population in southwest China.
|
29330562 |
2018 |
|
rs121918661
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
|
15885610 |
2005 |
|
rs121918661
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Functional characterization of natural telomerase mutations found in patients with hematologic disorders.
|
16990594 |
2007 |
|
rs121918661
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.
|
19760749 |
2009 |