Rs1333049
From SNPedia
| increased risk for CAD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1333049 |
| hapmap | rs1333049 |
| hgdp | rs1333049 |
| ensembl | rs1333049 |
| gopubmed | rs1333049 |
| scholar | rs1333049 |
| rs1333049 | |
| pharmgkb | rs1333049 |
| hgvbaseg2p | rs1333049 |
| medrefsnp | rs1333049 |
| 23andMe | rs1333049 |
| SNP Nexus |
| Chromosome | 9 |
| Orientation | plus |
| Position | 22115503 |
| Genotype | Effect |
|---|---|
| rs1333049(C;C) | 1.9x increased risk for CAD |
| rs1333049(C;G) | 1.5x increased risk for CAD |
| rs1333049(G;G) | normal |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs1333049(C;C) | 44 | 1.9x increased risk for CAD |
| Rs1333049(C;G) | 33 | 1.5x increased risk for CAD |
| Rs1333049(G;G) | 00 | normal |
| This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
|
rs1333049 has been reported in a large study to be associated with heart disease, in particular, coronary artery disease.
The risk allele (oriented to the dbSNP entry) is most likely (C); the odds ratio associated with heterozygotes is 1.47 (CI 1.27-1.70), and for homozygotes, 1.9 (CI 1.61-2.24). [PMID 17554300]
This SNP has also been reported to have the highest association of any SNP studied in a subsequent experiment conducted with the resources of the German MI [Myocardial Infarction] Family Study. [PMID 17634449, PMID 18362232]
The initial studies were conducted on Caucasian populations. A subsequent study of Japanese and Korean patients has also found rs1333049 to be associated with increased coronary artery disease risk, with roughly similar odds ratios.[PMID 18264662]
[PMID 18652946] A long-term study of a cohort of 769 individuals finds that the rs1333049(C) allele was associated with:
- prevalent carotid atherosclerosis (odds ratio 1.46, 1.43 or 1.44, from data collected in 1990, 1995, and 2000, respectively, all with CI: ~1.1-1.9);
- progression of atherosclerosis (for example, odds ratio 1.87 (CI: 1.44 to 2.42) during 1995 to 2000);
- incident cardiovascular disease (hazard ratio: 1.37 (CI: 1.05 to 1.79)}.
- Note: this SNP and rs10757278 are practically equivalent, with linkage r2=1 in HapMap CEU populations
[PMID 18979498] rs1333049 1.15x risk associated with both coronary heart disease and stroke
[PMID 19171343] In a cross-sectional study of individuals with stable coronary artery disease, there was no association with cardiovascular structure and function.
| ? | (C;C) (C;G) (G;G) |
|---|---|
|
| |
| Neighbor | rs10757278 |
| Distance | 1026 |
| Neighbor | rs10811661 |
| Distance | 8591 |
| Neighbor | rs1333048 |
| Distance | 156 |
| GWAS | |
|---|---|
| SNP | rs1333049 |
| PubMedID | [PMID 17554300] |
| Condition | Coronary disease |
| Gene | CDKN2A,CDKN2B |
| Risk Allele | C |
| pValue | 1.00E-013 |
| OR | 1.47 |
| 95% CI | 1.27-1.70 |
[PMID 19164808] Large scale association analysis of novel genetic loci for coronary artery disease
[PMID 19548844] Chromosome 9p21 polymorphism is associated with myocardial infarction but not with clinical outcome in Han Chinese
[PMID 19709660] Single nucleotide polymorphism on chromosome 9p21 and endothelial progenitor cells in a general population cohort
[PMID 18675980] Novel genetic variants linked to coronary artery disease by genome-wide association are not associated with carotid artery intima-media thickness or intermediate risk phenotypes
[PMID 19955471] Genetic Variants Identified in a European Genome-Wide Association Study That Were Found to Predict Incident Coronary Heart Disease in the Atherosclerosis Risk in Communities Study
| PharmGKB | PA162356642 |
| Name | |
| Annotation | GWAS Results: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls (Initial Sample Size: 1,926 cases, 2,938 controls; Replication Sample Size: (see Samani 2007); Risk Allele: rs1333049-C). This variant is associated with coronary disease. |
| Gene | - |
| Featue | |
| Evidence | PubMed ID:17554300; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | Coronary Disease |
| Curation Level | Non-Curated |
[PMID 20031606] The 9p21 Myocardial Infarction Risk Allele Increases Risk of Peripheral Artery Disease in Older People
[PMID 20031580] Common genetic variants on chromosome 9p21 confers risk of ischemic stroke: a large-scale genetic association study
[PMID 19926059] No association of chromosome 9p21.3 variation with clinical and angiographic outcomes after placement of drug-eluting stents
