Rs3798220

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Orientationplus
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
ReferenceGRCh38 38.1/141
Chromosome6
Position160540105
GeneLPA
is asnp
is mentioned by
dbSNPrs3798220
Exacrs3798220
PheGenIrs3798220
nextbiors3798220
hapmaprs3798220
1000 genomesrs3798220
hgdprs3798220
ensemblrs3798220
gopubmedrs3798220
geneviewrs3798220
scholarrs3798220
googlers3798220
pharmgkbrs3798220
gwascentralrs3798220
openSNPrs3798220
23andMers3798220
23andMe allrs3798220
SNP Nexus

SNPshotrs3798220
SNPdbers3798220
MSV3drs3798220
GMAF0.05693
Max Magnitude2.6
? (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 18775538OA-icon.png]

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

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

OMIM152200
Desc
Variant
Relatedalso
GWAS snp
PMID [PMID 21378990OA-icon.png]
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 18682748OA-icon.png] Analysis of 17,576 potentially functional SNPs in three case-control studies of myocardial infarction.


[PMID 19060906OA-icon.png] 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 21283670OA-icon.png] 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.


GET Evidence
LPA-I1891M
aa_change Ile1891Met
aa_change_short I1891M
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0160811
summary This variant strongly associated with an increase in Lp(a) lipoprotein levels, associated with an increased risk of coronary disease in a dominant or incomplete dominant manner. This variant is also referred to as I4399M in literature; this discrepancy is due to a highly variable number of kringle repeats in the protein (2-43), our version for inferring amino acid changes from genetic variants uses an assembly with 15 copies.



[PMID 23735648] Validation and Quantification of Genetic Determinants of Lipoprotein-a Levels and Predictive Value for Angiographic Coronary Artery Disease


[PMID 23978127OA-icon.png] 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 23100282OA-icon.png] 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