rs1333048
| coronary artery disease risk and periodontitis |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal |
| (A;C) | 2 | 1.3x increased coronary artery disease risk |
| (C;C) | 2.1 | 1.5x increased coronary artery disease risk; 2x increased periodontitis risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 22125348 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1333048 |
| dbSNP (classic) | rs1333048 |
| ClinGen | rs1333048 |
| ebi | rs1333048 |
| HLI | rs1333048 |
| Exac | rs1333048 |
| Gnomad | rs1333048 |
| Varsome | rs1333048 |
| LitVar | rs1333048 |
| Map | rs1333048 |
| PheGenI | rs1333048 |
| Biobank | rs1333048 |
| 1000 genomes | rs1333048 |
| hgdp | rs1333048 |
| ensembl | rs1333048 |
| geneview | rs1333048 |
| scholar | rs1333048 |
| rs1333048 | |
| pharmgkb | rs1333048 |
| gwascentral | rs1333048 |
| openSNP | rs1333048 |
| 23andMe | rs1333048 |
| SNPshot | rs1333048 |
| SNPdbe | rs1333048 |
| MSV3d | rs1333048 |
| GWAS Ctlg | rs1333048 |
| GMAF | 0.4541 |
| Max Magnitude | 2.1 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
rs1333048 increases susceptibility to coronary artery disease 1.30 times for heterozygotes (AC) and 1.54 times for homozygotes (CC) [PMID 17478681
]
Study Draws Genetic Link Between Gum, Cardiovascular Disease
| Rs1333048 | |
|---|---|
| PubMed | [PMID 17478681]
|
| Affy Probeset | SNP_A-1855630 |
| Affy Orientation | reverse |
| On GW 5.0 | 1 |
| Alleles A/B | G/T |
| Ancestral | A |
| Population | CEU |
| Allele | C |
| Case Freq. | |
| Control Freq. | |
| Odds Ratio Het | 1.30 |
| Odds Ratio Hom | 1.54 |
| Odds Ratio All | 1.23 |
| Disease | Coronary artery disease (CAD) |
[PMID 19214202] rs1333048 2x risk for periodontitis and a confirmation of coronary heart disease
[PMID 20696043] Replication of the association of chromosomal region 9p21.3 with generalized aggressive periodontitis (gAgP) using an independent case-control cohort
[PMID 22430189] Replication of relevant SNPs associated with cardiovascular disease susceptibility obtained from GWAs in a case-control study in a Canarian population
[PMID 18987759] Genetic testing for atherosclerosis risk: inevitability or pipe dream?
[PMID 19578366] Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.
[PMID 23587006] Validation of reported genetic risk factors for periodontitis in a large-scale replication study
[PMID 28580310] ANRIL Genetic Variants in Iranian Breast Cancer Patients.
[PMID 30600348] Dietary patterns interact with chromosome 9p21 rs1333048 polymorphism on the risk of obesity and cardiovascular risk factors in apparently healthy Tehrani adults.
[PMID 31812071] Genetic variants within ANRIL (antisense non coding RNA in the INK4 locus) are associated with risk of psoriasis.
