|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Three adult glioma risk variants, rs634537, rs2157719, and rs145929329, all mapping to the 9p21.3 (<i>CDKN2B-AS1</i>) locus, were associated with glioma risk in children and AYA.
|
31040135 |
2019 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci influencing glioma risk: rs2736100 (TERT), rs11979158 and rs2252586 (EGFR), rs4295627 (CCDC26), rs4977756 (CDKN2A/CDKN2B), rs498872 (PHLDB1), and rs6010620 (RTEL1).
|
23161787 |
2013 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In analyses including glioma cases with a family history of brain tumours (n = 104) and control subjects free of glioma at baseline, three of seven SNPs were associated with glioma risk: rs2736100 (5p15.33, TERT), rs4977756 (9p21.3, CDKN2A-CDKN2B) and rs6010620 (20q13.33, RTEL1).
|
23115063 |
2013 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs2736100, TERT), 8q24.21 (rs4295627, CCDC26), 9p21.3 (rs4977756, CDKN2A-CDKN2B), 20q13.33 (rs6010620, RTEL1), and 11q23.3 (rs498872, PHLDB1), and two loci at 7p11.2 (rs11979158 and rs2252586, EGFR).
|
21825990 |
2011 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
GWASDB |
Chromosome 7p11.2 (EGFR) variation influences glioma risk.
|
21531791 |
2011 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Three of the gene variants (rs4295627, a variant of CCDC26; rs4977756, a variant of CDKN2A and CDKN2B; and rs6010620, a variant of RTEL1) were statistically significantly associated with glioma risk in the present population.
|
21920947 |
2011 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Data from 855 high-grade glioma cases and 1,160 controls from 4 geographic regions of the United States during 1997-2008 were analyzed for interactions between allergy and smoking histories and inherited variants in 5 established glioma risk regions: 5p15.3 (TERT), 8q24.21 (CCDC26/MLZE), 9p21.3 (CDKN2B), 11q23.3 (PHLDB1/DDX6), and 20q13.3 (RTEL1).
|
21742680 |
2011 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in five loci at 5p15.33 (rs2736100, TERT), 8q24.21 (rs4295627, CCDC26), 9p21.3 (rs4977756, CDKN2A/CDKN2B), 20q13.33 (rs6010620, RTEL1), and 11q23.3 (rs498872, PHLDB1) to be associated with glioma risk.
|
20847058 |
2010 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8q24.21 (rs4295627, CCDC26), 9p21.3 (rs4977756, CDKN2A-CDKN2B), 11q23.3 (rs498872, PHLDB1), and 20q13.33 (rs6010620, RTEL1) as determinants of glioma risk.
|
20462933 |
2010 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
GWASDB |
We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (rs4295627, CCDC26; P = 2.34 x 10(-18)), 9p21.3 (rs4977756, CDKN2A-CDKN2B; P = 7.24 x 10(-15)), 20q13.33 (rs6010620, RTEL1; P = 2.52 x 10(-12)) and 11q23.3 (rs498872, PHLDB1; P = 1.07 x 10(-8)).
|
19578367 |
2009 |
|
Glioma
|
0.700 |
Biomarker
|
disease |
CTD_human |
We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (rs4295627, CCDC26; P = 2.34 x 10(-18)), 9p21.3 (rs4977756, CDKN2A-CDKN2B; P = 7.24 x 10(-15)), 20q13.33 (rs6010620, RTEL1; P = 2.52 x 10(-12)) and 11q23.3 (rs498872, PHLDB1; P = 1.07 x 10(-8)).
|
19578367 |
2009 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (rs4295627, CCDC26; P = 2.34 x 10(-18)), 9p21.3 (rs4977756, CDKN2A-CDKN2B; P = 7.24 x 10(-15)), 20q13.33 (rs6010620, RTEL1; P = 2.52 x 10(-12)) and 11q23.3 (rs498872, PHLDB1; P = 1.07 x 10(-8)).
|
19578367 |
2009 |
|
Glioma
|
0.700 |
Biomarker
|
disease |
CTD_human |
Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.
|
19578366 |
2009 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Beside CDKN2A, other genes (e.g., CDKN2B, and ARF/p14(ARF), long considered distinct from CDKN2A) on this locus are often deleted or mutated in a large number of tumors including glioma, bladder cancer, and lung cancer.
|
18406873 |
2008 |
|
Glioma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
After infection, high levels of p16 and p15 were observed in two human glioma cell lines (U251 MG and U373 MG).
|
10939591 |
2000 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Thus, despite the association between the sporadic forms of high-grade glioma and abnormalities of p16(INK4A), p15(INK4B), or CDK4, we found no evidence that germ-line mutations in the coding region of these three genes predispose to inherited glial tumors.
|
9815774 |
1997 |
|
Glioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In order to test the candidacy of p16beta as a glioma suppressor, we replaced p16(INK4a), p15(INK4b) and p16beta wild-type as well as a series of seven glioma-derived p16beta alleles (R87H, A112V, R120H, A121V, G125R, A128A and A128V), into glioma cell lines that had either CDKN2A-/RB+ (U-87MG and U-251MG) or CDKN2A+/RB- (LN-319) endogenous backgrounds and demonstrated that p16beta can act as a functional glioma cell growth suppressor.
|
9366518 |
1997 |
|
Glioma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Homozygous deletion of the MTS1/p16 and MTS2/p15 genes and amplification of the CDK4 gene in glioma.
|
7478535 |
1995 |
|
Glioma
|
0.700 |
PosttranslationalModification
|
disease |
BEFREE |
These results suggested that inactivation of the CDK4I gene may play an important role in the progression of human glioma.
|
7775255 |
1995 |
|
Glioma
|
0.700 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Glioma
|
0.700 |
GenomicAlterations
|
disease |
CGI |
|
|
|
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Elevated methylation of cyclin dependent kinase inhibitor 2B contributes to the risk of coronary heart disease in women.
|
30651784 |
2019 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We investigate the association of 9p21.3 two haplotype blocks lead variants (rs10757278 and rs518394) with first-ever non-fatal myocardial infarction (MI) in CAD patients and their association with CDKN2B mRNA expression in peripheral blood mononuclear cells 6 months after the event.
|
31386834 |
2019 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Four SNPs, rs4977574_A [0.56(0.50-0.63); p < 0.0001], rs10757274_A [0.87(0.77-0.97); p = 0.014], rs10738607_A [0.89(0.80-1.00); p = 0.043] and rs1333045_T [0.54(0.48-0.61); p < 0.0001] residing on the CDKN2B gene were significantly associated with CAD following multivariate adjustments for MI, HTN and DM, while four others were weakly associated with the disease.
|
29894795 |
2018 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.
|
29212778 |
2018 |