rs121913500, IDH1

N. diseases: 96
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.100 GeneticVariation BEFREE Tumor-to-muscle ratios were also significantly higher in U251/IDH1 R132H tumo</span>rs (3.36 ± </span>0.41 vs. 1.88 ± 0.59, p = 0.0030). 31667733 2019
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.100 GeneticVariation BEFREE The findings of the current study demonstrate presence of the IDH1 R132H mutation in primary human glioblastoma cell lines with upregulated HIF-1α expression, downregulating c-MYC activity and resulting in a consequential decrease in miR-20a, which is responsible for cell proliferation and resistance to standard temozolomide treatment. 29625108 2018
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.100 GeneticVariation BEFREE To confirm this mutation's role in GSCs, the IDH1-R132H in GSCs isolated from glioblastoma patients with IDH1 mutations was overexpressed by using lentiviral constructs in vitro, and then the proliferation, differentiation, apoptosis, migration and invasion of the transfected GSCs were explored. 29115585 2018
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.100 GeneticVariation BEFREE In the subgroup of 142 glioma patients characterized by IDH1-R132H status, METT/N ratio demonstrated a significant prognostic impact in IDH1-R132H wildtype astrocytomas and glioblastoma (P = 0.001). 29016947 2018
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.100 GeneticVariation BEFREE Low-grade gliomas (WHO II/III) had lower xCT expression than glioblastoma (p = 0.001), and tumors without IDH1 R132H mutation tended to have higher xCT levels (p = 0.07). 29404978 2018
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.100 GeneticVariation BEFREE We identified a small cohort of WHO grade II-III astrocytomas that harbored the IDH1 R132H mutation, as confirmed by both immunohistochemistry and molecular sequence analysis, which nonetheless had unexpectedly rapid recurrence and subsequent progression to glioblastoma. 28421459 2017
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.100 GeneticVariation BEFREE Mean CBF1 expression is significantly increased in isocitrate dehydrogenase 1 (IDH1) R132H mutant glioblastoma and serves as prognostic marker for prolonged overall survival in brain tumours, particularly after therapy with temozolomide. 28571041 2017
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.100 GeneticVariation BEFREE In this study, we investigated which genes are differentially regulated in IDH1 wild type (IDH1WT) or IDH1 R132H mutation (IDH1R132H) glioblastoma cells. 28445981 2017
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.100 GeneticVariation BEFREE Multivariate analysis revealed age, Karnofsky performance score, extent of tumor resection, first-line treatment, year of diagnosis, and MGMT promoter methylation status were associated with survival in patients with IDH1(R132H) -nonmutant glioblastoma. 27088883 2016
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.100 GeneticVariation BEFREE In addition, overexpression of IDH1-R132H in glioblastoma cell lines U87 and U251 led to reduced cell proliferation, migration and invasion, accompanied by increased apoptosis. 26860959 2016
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.100 GeneticVariation BEFREE ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an "integrated" diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. 25427834 2015
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.100 GeneticVariation BEFREE HMab-2 detected endogenous IDH1-R132H protein expressed in glioblastoma in immunohistochemical analysis. 26381180 2015
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.100 GeneticVariation BEFREE We also found that overexpression of αB-crystallin can be induced by transfecting U251 human glioblastoma cell lines with the IDH1(R132H) mutation. 24473683 2014
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.100 GeneticVariation BEFREE Induction of G-CIMP+ state by exogenous expression of a mutated isocitrate dehydrogenase 1, IDH1-R132H, suppressed EGFR and H-Ras protein expression as well as pERK accumulation in independent glioblastoma models. 25277177 2014
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.100 GeneticVariation BEFREE Expression of R132H mutational IDH1 in human U87 glioblastoma cells affects the SREBP1a pathway and induces cellular proliferation. 23011765 2013
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.100 GeneticVariation BEFREE Here we show that SREBPs were up-regulated in U87 human glioblastoma cells transfected with an IDH1(R132H)-expression plasmid. 24077277 2013
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.100 GeneticVariation BEFREE Overexpression of IDH1(R132H) and IDH2(R172K) mutant protein in glioblastoma cells resulted in increased radiation sensitivity and altered ROS metabolism and suppression of growth and migration in vitro. 23115158 2013
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.100 GeneticVariation BEFREE Furthermore, SMab-1 specifically stained the IDH1-R132S-expressing glioblastoma cells in immunocytochemistry and immunohistochemistry, but did not react with IDH1-WT or IDH1-R132H-containing glioblastoma cells. 21352804 2011