|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(INK4a), ARF and ANRIL) was found in PBTL of individuals harboring a common SNP (rs10757278) associated with increased risk of coronary artery disease, stroke and aortic aneurysm.
|
19343170 |
2009 |
|
Coronary Artery Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
In 3 of the 14 regions, TCF7L2 (T2D), CTLA4 (Graves' disease) and CDKN2A-CDKN2B (T2D), much of the posterior probability rested on a single SNP, and, in 4 other regions (CDKN2A-CDKN2B (CAD) and CDKAL1, FTO and HHEX (T2D)), the 95% sets were small, thereby excluding most SNPs as potentially causal.
|
23104008 |
2012 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this study, we verify the association between the rs1333049 single nucleotide polymorphism (9p21.3) within CDKN2A-CDKN2B and coronary artery disease (CAD) in an Italian population.
|
28639227 |
2017 |
|
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 |
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 |
This is the first report of a CAD association signal in a population of African ancestry with a common variant within the CDKN2B gene, independent from previous findings in European and East Asian ancestry populations.
|
21270820 |
2011 |
|
Coronary Artery Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Interferon-γ activates expression of p15 and p16 regardless of 9p21.3 coronary artery disease risk genotype.
|
23199516 |
2013 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide association studies have identified a coronary artery disease (CAD) risk locus in a non-coding region at 9p21.3, the nearest genes being CDKN2A and CDKN2B.
|
22768093 |
2012 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our thorough genomic characterization of 9p21.3 suggests common variants likely account for observed disease associations and provides further support for the hypothesis that complex regulatory variation affecting ANRIL and CDKN2B gene expression may contribute to increased risk for clinically apparent and subclinical coronary artery disease and aortic disease.
|
23315372 |
2013 |
|
Coronary Artery Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The results of this study indicate that the 9p21 variation has an impact on CDKN2A and CDKN2B expression in VSMCs and influences VMSC proliferation, which likely represents an important mechanism for the association between this genetic locus and susceptibility to CAD.
|
22706276 |
2012 |