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From SNPedia

Geno Mag Summary
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
GeneKIF6, LOC107986594
is asnp
is mentioned by
dbSNP (classic)rs20455
1000 genomesrs20455
GWAS Ctlgrs20455
Max Magnitude0
? (C;C) (C;T) (T;T) 28

rs20455, often called Arg719 or 719Arg, is a reasonably well studied SNP in the KIF6 gene. The risk allele (encoding the arginine at position 719) is rs20455(C).

An extensive 2010 meta-analysis, including over 17,000 patients, suggests this variant does not significantly influence coronary artery disease risk.[PMID 20933357OA-icon.png]

This SNP is one of the 5 used by Celera's genetic risk score (GRS) for coronary heart disease (CHD).

For each of the five variants, the GRS was increased by 1 if the subject was homozygous for the risk variant, unchanged if heterozygous, and decreased by 1 if the individual did not carry the variant. Therefore, individuals carrying all 10 possible risk variants (two copies of each of the five SNPs) were assigned a GRS of 5 and those carrying no risk variants a GRS of -5. A high GRS was defined as 3 or higher. Approximately 4% of the white cohort in ARIC was classified as high risk, and the hazard ratio for CHD after adjustment for traditional risk factors was a significant 1.57 (CI: 1.21-2.04; p<0.001). The results did not reproduce for African American participants.[PMID 18073581]

[PMID 18222354] Carriers of the 719Arg allele of KIF6 have 34% higher risk of myocardial infarction and 24% higher risk of coronary heart disease compared with noncarriers among 25,283 women.

[PMID 18222355] Carriers of 719Arg receive significantly greater benefit from intensive statin therapy than do noncarriers. The benefit from intensive (compared with moderate) statin therapy was significantly greater in the 59% of the 1,778 patients who were carriers (hazard ratio 0.59, CI: 0.45 -0.77) than in those who were noncarriers (HR 0.94, CI: 0.70-1.27; p=0.018 for interaction between 719Arg carrier status and treatment). The absolute risk reduction was 10.0% in carriers versus 0.8% in noncarriers.

[PMID 18222353] Untreated carriers of the rs20455 risk allele had odds ratios for MI or stroke of 1.50 and 1.55 (CI: 1.05-2.15 or 1.14-2.09) in two large clinical trials. Among treated carriers, the absolute risk reduction by pravastatin therapy was 4.9% and 5.5% (CI: 1.81-7.9% or 3.5-7.5%). Therefore, in both trials carriers of a rs20455(C) SNP had an increased risk of coronary events, and statin treatment (in this case, pravastatin) reduced that risk more for such carriers than for noncarriers.

[PMID 20215968] Elderly carriers of a rs20455(C) (719Arg) allele with prior vascular disease received significant benefit from pravastatin; however, no benefit was observed in noncarriers with prior disease or in those without prior disease (carriers or noncarriers).

[PMID 20403483] Across all ethnic groups studied, pravastatin therapy significantly and substantially reduced both fatal coronary events and nonfatal myocardial infarctions only for carriers of the 719Arg allele (and not for noncarriers).

[PMID 19752551OA-icon.png] Polymorphisms associated with both noncardioembolic stroke and coronary heart disease: vienna stroke registry

[PMID 20886236OA-icon.png] Genetic variants in the KIF6 region and coronary event reduction from statin therapy

[PMID 21435211OA-icon.png] Survival bias and drug interaction can attenuate cross-sectional case-control comparisons of genes with health outcomes. An example of the kinesin-like protein 6 (KIF6) Trp719Arg polymorphism versus coronary heart disease

[PMID 22135385] The 719Arg Variant of KIF6 and Cardiovascular Outcomes in Statin-Treated, Stable Coronary Patients of the TNT and IDEAL Prospective Studies

[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 18799872OA-icon.png] Single nucleotide polymorphisms associated with coronary heart disease predict incident ischemic stroke in the atherosclerosis risk in communities study.

[PMID 21458191] No impact of KIF6 genotype on vascular risk and statin response among 18,348 randomized patients in the heart protection study.

[PMID 21810021] Investigation of KIF6 Trp719Arg in a case-control study of coronary artery disease in Western Indians.

[PMID 23001387OA-icon.png] Association of KIF6 variant with lipid level and angiographic coronary artery disease events risk in the Han Chinese population.

[PMID 26236646OA-icon.png] Genotyping and meta-analysis of KIF6 Trp719Arg polymorphism in South Indian Coronary Artery Disease patients: A case-control study

[PMID 26443250] Impact of KIF6 Polymorphism rs20455 on Coronary Heart Disease Risk and Effectiveness of Statin Therapy in 100 Patients from Southern Iran

Risk Rs20455(C;C)
Alt Rs20455(C;C)
Reference Rs20455(T;T)
Significance Drug-response
Disease Atorvastatin response - Efficacy pravastatin response - Efficacy
Variation info
Gene KIF6
CLNDBN atorvastatin response - Efficacy pravastatin response - Efficacy
Reversed 1
HGVS NC_000006.11:g.39325078A>G
CLNSRC PharmGKB Clinical Annotation
CLNACC RCV000211234.1, RCV000211413.1,