rs4977574, CDKN2B-AS1

N. diseases: 26
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Vascular Diseases
CUI: C0042373
Disease: Vascular Diseases
0.010 GeneticVariation BEFREE The lead SNP at the 9p21 locus (rs4977574) was associated with all four vascular diseases (P < 4 × 10(-3)), illustrating the functional pleiotropy of this locus. 23828831 2013
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.010 GeneticVariation BEFREE The A allele of the rs4977574 had a protective effect against psoriasis (OR (95% CI) = 0.63 (0.49-0.81), adjusted P value = 0.001). 31812071 2020
Pseudocholinesterase Measurement
CUI: C1168443
Disease: Pseudocholinesterase Measurement
0.700 GeneticVariation GWASDB Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. 21239051 2011
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.010 GeneticVariation BEFREE rs4977574 on chromosome 9p21 was genotyped in 24 777 subjects from the Malmö Diet and Cancer study who were free from CVD prior to the baseline examination. 23480785 2013
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.880 GeneticVariation BEFREE One marker, rs6922269, in MTHFD1L was significantly protective against MI (OR=0.68, p=0.0035), while the variant rs4977574 in CDKN2A-CDKN2B was significantly associated with MI (OR=1.33, p=0.0086). 22216278 2011
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.880 GeneticVariation GWASCAT Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. 19198609 2009
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.880 GeneticVariation BEFREE Comparisons of allele frequencies by the χ(2) test revealed that rs9369640 of the phosphatase and actin regulator 1 gene (PHACTR1, FDR=0.0007), rs4977574 of the CDKN2B antisense RNA 1 gene (CDKN2B-AS1, FDR=0.0038), rs264 of the lipoprotein lipase gene (LPL, FDR=0.0061), rs599839 of the proline/serine-rich coiled-coil 1 gene (PSRC1, FDR=0.0118), rs9319428 of the fms-related tyrosine kinase 1 gene (FLT1, FDR=0.0118) and rs12413409 of the cyclin and CBS domain divalent metal cation transport mediator 2 gene (CNNM2, FDR=0.0300) were significantly associated with MI. 25738804 2015
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.880 GeneticVariation 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
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.880 GeneticVariation BEFREE The rs4977574 with G allele may confer to a higher risk of CAD, especially MI. 30278588 2018
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.880 GeneticVariation BEFREE Besides the CAD/MI SNP at 9p21 (rs4977574, P = 3.1 × 10(-10)), two additional loci at ADAMTS7 (rs3825807, P = 6.5 × 10(-6)) and at PHACTR1 (rs12526453, P = 1.0 × 10(-3)) show a nominally significant association with coronary artery calcification with MI/CAD risk alleles increasing the degree of arterial calcification. 23561647 2013
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.880 GeneticVariation GWASDB A common variant on chromosome 9p21 affects the risk of myocardial infarction. 17478679 2007
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.880 GeneticVariation BEFREE PCR-RFLP revealed that the frequency of rs4977574, the MI-associated allele (G), was 56.8% (25/44) in patients with MI and 33.9% (9.5/28) in controls; the frequency of rs4977574 in patients with MI was significantly higher compared to controls (P = 0.027). 23856978 2013
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.880 GeneticVariation GWASDB Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. 19198609 2009
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.880 GeneticVariation BEFREE We showed a significant interaction between SSB intake and one of the 3 variants (i.e., rs4977574) on MI risk. 26961926 2016
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.880 GeneticVariation BEFREE After age, sex, and BMI adjustment, we observed the SNPs rs12190287, rs12413409, rs1412444, rs1746048 and rs4977574, were significantly associated with MI in additive models and rs12190287, rs12413409, rs4977574 were significantly associated with phenotypes of MI at the same time. 24475106 2014
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.010 GeneticVariation BEFREE However, haplotype analysis (rs1333045, rs1333048, rs4977574, and rs10757278 respectively) demonstrated protective effect of CCGG and TAAA haplotypes against MS (P values of 0.043 and 0.0026 respectively). 29713948 2018
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.010 GeneticVariation BEFREE rs4977574 on chromosome 9p21 was genotyped in 24 777 subjects from the Malmö Diet and Cancer study who were free from CVD prior to the baseline examination. 23480785 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.010 GeneticVariation BEFREE In addi- tion, among all observed haplotypes (with SNP order of rs1333045, rs1333048 rs4977574 and rs10757278), four haplotypes were shown to be associated with breast cancer risk. 28580310 2017
Major Depressive Disorder
CUI: C1269683
Disease: Major Depressive Disorder
0.700 GeneticVariation GWASDB Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. 23377640 2013
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.020 GeneticVariation BEFREE The interactions of rs1333040-rs1333042 on the risk of CHD and IS were relatively strong, whereas the interactions of rs1333040-rs1333042-rs2066715 and rs1333040-rs1333042-rs2066715-rs2740483 on the risk of CHD, and rs1333040-rs1333042-rs4977574 and rs1333040-rs1333042-rs4977574-rs2740483 on the risk of IS were relatively weak. 27096864 2016
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.020 GeneticVariation BEFREE SNP rs4977574 on chromosome 9p21.3 was associated with overall IS [odds ratio (OR) = 1.12; 95% confidence interval (CI): 1.04-1.20; P = 0.002] as well as LVD (OR = 1.36; 95% CI: 1.13-1.64; P = 0.001). 23631657 2013
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.010 GeneticVariation BEFREE Our findings suggest that the GG genotype of the CDKN2B-AS1 gene variant rs4977574, which has been previously associated with an increased CAD risk, is also associated with a decreased susceptibility to the development of hypertension. 29791233 2018
Heart Diseases
CUI: C0018799
Disease: Heart Diseases
0.010 GeneticVariation BEFREE The Correlation Between 9p21 Chromosome rs4977574 Polymorphism Genotypes and the Development of Coronary Artery Heart Disease. 27240780 2017
Glioma
CUI: C0017638
Disease: Glioma
0.700 GeneticVariation GWASDB Chromosome 7p11.2 (EGFR) variation influences glioma risk. 21531791 2011
Glaucoma, Open-Angle
CUI: C0017612
Disease: Glaucoma, Open-Angle
0.700 GeneticVariation GWASDB Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. 22570617 2012