|
rs1042026735
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
We found three missense (p.R132C, p.R132G, and p.I99M; occurred in five patients) and one silent mutation (c.315C>T; occurred in two patients) in the IDH1 gene and two missense mutations (p.R140Q and p.R172K; occurred in four AML patients) and one silent mutation (c.435G>A) in the IDH2 gene.
|
20946881 |
2010 |
|
rs1042028
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
SULT1A1 (c.638G>A) was associated to infant acute lymphoblastic leukemia and acute myeloid leukemia (AML) risk in males (additive model: aOR = 0.52; 95% CI: 0.29-0.95, p = 0.03; dominant model: aOR = 2.18; 95% CI: 1.17-4.05, p = 0.01, respectively).
|
25992585 |
2015 |
|
rs10514611
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
In adult myeloid leukemias we found significant associations between the variant allele of PML_rs9479 and decreased AML risk (OR = 0.61 (0.38-0.97), and between variant alleles of IRF8_ rs10514611 and ARHGAP26_rs187729 and increased CML risk (OR = 2.4 (1.12-5.15) and 1.63 (1.07-2.47), respectively).
|
24886876 |
2014 |
|
rs1051740
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
EPHX1 rs1051740 T>C (Tyr113His) is strongly associated with acute myeloid leukemia and KMT2A rearrangements in early age.
|
29605894 |
2018 |
|
rs1052133
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
The OGG1 S326C CC genotype (associated with lower OGG1 activity) was observed more frequently in patients with AML relapse [28.9 vs. 8.9%, odds ratio (OR) = 4.10, 95% confidence interval (CI) = 1.35-12.70, P = 0.01].
|
29737460 |
2018 |
|
rs1052576
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
To test this hypothesis, we have analyzed four CASP9 gene polymorphisms [CASP9 - 1263A > G (rs4645978), CASP9 - 712C > T (rs4645981), CASP9 - 293_275del CGTGAGGTC AGTGCGGGGA (-293del) (rs4645982), and CASP9 Ex5 + 32G > A (rs1052576)] in 180 AML cases and 304 age- and sex-matched healthy controls.
|
24879622 |
2014 |
|
rs1057519781
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
This is the first report on the development of a p.G1269A mutation within the kinase domain (KD) of ALK after crizotinib treatment in RANBP2-ALK acute myeloid leukemia (AML).
|
25766836 |
2015 |
|
rs1057519975
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
We previously identified a case of human acute myelogenous leukemia (AML) in which both alleles of the p53 gene had undergone independent missense mutations (at codons 135 cys to ser and 246 met to val).
|
1918170 |
1991 |
|
rs1057520001
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
We suggest that SNPs in the P53 pathway, especially the P21 ser31arg polymorphism and combined polymorphisms especially the P21/ MDM2 might be genetic susceptibility factors in the pathogenesis of AML.
|
23167335 |
2012 |
|
rs1057520016
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
This study provides clues in understanding structural basis of T875N mutation caused JAK2 hyperactivation and its roles in the pathology of AML.
|
31299252 |
2019 |
|
rs1078327
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
However, a weak association between a single nucleotide polymorphism in the NOD2 gene (R471C) and acute myeloid leukemia in the bone marrow patients (p = 0.029, odds ratio 4.08, 95% CI 1.22-13.67) was detected.
|
21573891 |
2011 |
|
rs10873876
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
However, the variant T allele of rs10873876 decreased the AML risk, which was in the opposite effect direction (OR 0.62, P < 0.001 in additive model).
|
26177813 |
2016 |
|
rs10994982
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
The SNPs (IKZF1 rs11978267, ARID5B rs10821936 and rs10994982, CEBPE rs2239633) were genotyped in 265 cases [169 acute lymphoblastic leukemia (ALL) and 96 acute myeloid leukaemia (AML)] and 505 controls by Taqman allelic discrimination assay.
|
24564228 |
2014 |
|
rs111033563
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).
|
15863206 |
2005 |
|
rs111394117
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
For patients with AML, the increased risk of post-HSCT relapse was associated with the donor SNP of rs111394117 in the intron of NOTCH4 gene, and the recipient SNPs of rs213210 in the ring finger protein 1 (RING1) gene promoter, and rs17220087 and rs17213693 in the intron of HLA-DOB gene.
|
31551439 |
2019 |
|
rs1127354
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
Compared to the normal population, frequencies for the 94C>A and IVS2+21A>C mutant alleles among the AHM patients were higher for myelodyplastic syndrome (MDS) - but below significance; were approximately equivalent for chronic lymphoblastic leukemia; and were lower for acute myeloid leukemia.
|
23547827 |
2013 |
|
rs1128503
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
Data from 30 pharmacogenomic studies that investigated MDR1 mRNA expression or gene variants (C3435T, G2677TA, C1236T) and response to therapy in acute myeloid leukaemia (AML) were synthesized.
|
23805980 |
2013 |
|
rs11545078
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
Allelic frequency of GGH 452C→T polymorphism was determined as 9.2% (CT, 11/71; TT, 1/71) in the ALL group, 8.0% (CT, 4/25; TT, 0/25) in the AML group, and 9.1% (TT, 4/132; T/C, 16/132) in the controls, respectively.
|
22568793 |
2012 |
|
rs1168030806
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
RUNX1, which regulates a gene for hematopoiesis, is frequently mutated in AML and, in this study, one out of three patients showed the mutation R174Q in RUNX1.
|
20694842 |
2010 |
|
rs1178981336
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
γH2AX immunofluorescent staining assay revealed increased DNA damage in a human acute myeloid leukemia (AML) cell line ectopically expressing HLTF E259K, which was not observed in cells expressing wild-type HLTF.
|
30696947 |
2019 |
|
rs11978267
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
Homozygosity for a variant IKZF1 allele (rs11978267) increased risk of infant AML [Odds ratio (OR) = 3.9, 95% confidence interval (CI) = 1.8-8.4]; the increased risk was similar for AML/MLL+ and MLL- cases.
|
22422485 |
2013 |
|
rs1203633
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
For rs1203633, LCLs with AA genotype were more sensitive to cytarabine-induced cytotoxicity (P = 1.31 × 10(-6)) and AA (vs GA or GG) genotype was associated with poorer OS (P = .015), likely as a result of greater treatment-related mortality (P = .0037) in patients with acute myeloid leukemia (AML).
|
23538338 |
2013 |
|
rs1205046029
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
In addition, overexpression of the AML patient-derived mutation N508D caused an increased proliferation rate of UKE-1 cells in comparison to wild type SHIP1.
|
29852247 |
2018 |
|
rs12147254
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
The TRAF3 (rs12147254) AA homozygosity (RR = 2.770, P = 0.0392), TLR9 (rs5743836) C wild-type allele (RR = 2.542, P = 0.0096) as well as TLR9 (rs187084) T allele (RR = 13.396, P < 0.0001) and its homozygosity (RR = 11.805, P < 0.0001) were more frequent among patients with AML than healthy individuals.
|
26919710 |
2016 |
|
rs121913240
|
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
In four out of 10 samples the levels of RAS-GTP were comparable to an AML cell line (TF-1) with an activating N-RAS mutation (Q61P).
|
16923573 |
2006 |