rs3798220
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2.6 | 2-3x higher risk for cardiovascular events, which can be lowered by aspirin |
| (C;T) | 2.3 | 2-3x higher risk for cardiovascular events, which can be lowered by aspirin |
| (T;T) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 160540105 |
| Gene | LPA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3798220 |
| dbSNP (classic) | rs3798220 |
| ClinGen | rs3798220 |
| ebi | rs3798220 |
| HLI | rs3798220 |
| Exac | rs3798220 |
| Gnomad | rs3798220 |
| Varsome | rs3798220 |
| LitVar | rs3798220 |
| Map | rs3798220 |
| PheGenI | rs3798220 |
| Biobank | rs3798220 |
| 1000 genomes | rs3798220 |
| hgdp | rs3798220 |
| ensembl | rs3798220 |
| geneview | rs3798220 |
| scholar | rs3798220 |
| rs3798220 | |
| pharmgkb | rs3798220 |
| gwascentral | rs3798220 |
| openSNP | rs3798220 |
| 23andMe | rs3798220 |
| SNPshot | rs3798220 |
| SNPdbe | rs3798220 |
| MSV3d | rs3798220 |
| GWAS Ctlg | rs3798220 |
| GMAF | 0.05693 |
| Max Magnitude | 2.6 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs3798220, also known as I4399M or Ile4399Met, is a SNP in the apolipoprotein(A) LPA gene that has been reported to be associated with elevated plasma lipoprotein(a) [Lp(a)] and increased cardiovascular risk, and in particular, coronary artery disease.
In one study, 25,131 initially healthy Caucasian participants in the Women's Health Study were followed for ~10 years. rs3798220(C) allele carriers (3.7%) in the placebo (i.e. not receiving aspirin) group had a 2x higher risk of major cardiovascular events than non-carriers (age-adjusted hazard ratio (HR) of 2.21, CI: 1.39-3.52). Among rs3798220(C) carriers, the risk was reduced more than twofold by aspirin: for aspirin compared with placebo the age-adjusted HR was 0.44 (CI: 0.20-0.94). The risk was not significantly reduced among non-carriers (age-adjusted HR=0.91, CI: 0.77-1.08). This interaction between carrier status and aspirin allocation was significant (P=0.048). In summary, rs3798220(C) carriers had higher plasma lipoprotein(a) and had double the risk of cardiovascular events, but also benefited more from taking aspirin.[PMID 18775538
]
In another study, compared with noncarriers, carriers of the 4399M risk allele (2.7% of controls) had an adjusted odds ratio for severe CAD of 3.14 (CI: 1.51 to 6.56), and had 5-fold higher median plasma lipoprotein(a) levels (P=0.003), leading to the conclusion that the LPA I4399M SNP is associated with severe CAD and plasma lipoprotein(a) levels.[PMID 17569884]
[PMID 20032323] Genetic Variants Associated with Lp(a) Lipoprotein Level and Coronary Disease
celera says rs3798220 is an independent predictor of risk for
- Coronary Heart Disease in men and women
- event reduction from low dose aspirin therapy in women
Carriers of the rs3798220(C) have higher levels of plasma Lp(a).
[PMID 20605575] Single variants can explain the association between coronary heart disease and haplotypes in the apolipoprotein(a) locus
| GWAS snp | |
|---|---|
| PMID | [PMID 21378990]
|
| Trait | |
| Title | Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease |
| Risk Allele | C |
| P-val | 3E-11 |
| Odds Ratio | 1.5100 [1.33-1.70] |
[PMID 22192511] KIF6, LPA, TAS2R50, and VAMP8 genetic variation, low density lipoprotein cholesterol lowering response to pravastatin, and heart disease risk reduction in the elderly
[PMID 18682748] Analysis of 17,576 potentially functional SNPs in three case-control studies of myocardial infarction.
[PMID 19060906] Common variants at 30 loci contribute to polygenic dyslipidemia.
[PMID 19880117] The I4399M variant of apolipoprotein(a) is associated with increased oxidized phospholipids on apolipoprotein B-100 particles.
[PMID 21252144] Lipoprotein(a) genetic variants associated with coronary and peripheral vascular disease but not with stroke risk in the Heart Protection Study.
[PMID 21283670] Single-nucleotide polymorphisms in LPA explain most of the ancestry-specific variation in Lp(a) levels in African Americans.
[PMID 22560621] Cost-effectiveness model of use of genetic testing as an aid in assessing the likely benefit of aspirin therapy for primary prevention of cardiovascular disease.
[PMID 23735648] Validation and Quantification of Genetic Determinants of Lipoprotein-a Levels and Predictive Value for Angiographic Coronary Artery Disease
[PMID 23978127] Lack of association between lipoprotein(a) genetic variants and subsequent cardiovascular events in Chinese Han patients with coronary artery disease after percutaneous coronary intervention
[PMID 24161338] Elevated Lipoprotein(a) and Risk of Aortic Valve Stenosis in the General Population
[PMID 22898070] Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism.
[PMID 23100282] Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study.
[PMID 23278389] Two rare variants explain association with acute myocardial infarction in an extended genomic region including the apolipoprotein(A) gene.
[PMID 23375930] Extreme lipoprotein(a) levels and improved cardiovascular risk prediction.
[PMID 24776095] LPA rs10455872 polymorphism is associated with coronary lesions in Brazilian patients submitted to coronary angiography
[PMID 26302166] Lack of association of rs3798220 with small apolipoprotein(a) isoforms and high lipoprotein(a) levels in East and Southeast Asians
[PMID 26564469] Advances in the Association between Apolipoprotein(a)Gene Polymorphisms and Coronary Heart Disease
[PMID 27831500] The LPA Gene, Ethnicity, and Cardiovascular Events.
[PMID 28566218] Relations between lipoprotein(a) concentrations, LPA genetic variants, and the risk of mortality in patients with established coronary heart disease: a molecular and genetic association study.
[PMID 28632940] Characterization of the I4399M variant of apolipoprotein(a): Implications for altered prothrombotic properties of lipoprotein(a).
[PMID 30594920] Investigation of LPA sequence variants rs6415084, rs3798220 with conventional coronary artery disease in Iranian CAD patients.
[PMID 31113255] Relationship between LPA SNPs and inflammatory burden in patients with preeclampsia to address future cardiovascular risk.
[PMID 32152647] Lipoprotein(a) plasma levels are not associated with incident microvascular complications in type 2 diabetes mellitus.
[PMID 32220223] Association between lipoprotein(a) (Lp(a)) levels and Lp(a) genetic variants with coronary artery calcification.
