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rs4363657

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 4 17x increased myopathy risk for statin users
(C;T) 2.1 4.5x increased myopathy risk for statin users
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome12
Position21215788
GeneSLCO1B1
is asnp
is mentioned by
dbSNPrs4363657
ebirs4363657
HLIrs4363657
Exacrs4363657
Varsomers4363657
Maprs4363657
PheGenIrs4363657
hapmaprs4363657
1000 genomesrs4363657
hgdprs4363657
ensemblrs4363657
gopubmedrs4363657
geneviewrs4363657
scholarrs4363657
googlers4363657
pharmgkbrs4363657
gwascentralrs4363657
openSNPrs4363657
23andMers4363657
23andMe allrs4363657
SNP Nexus

SNPshotrs4363657
SNPdbers4363657
MSV3drs4363657
GWAS Ctlgrs4363657
GMAF0.2484
Max Magnitude4
? (C;C) (C;T) (T;T) 28
rs4363657 is a SNP in the SLCO1B1 gene, a gene which encodes a protein involved in the liver's uptake of certain drugs, including the statins used to lower cholesterol levels.

[PMID 18650507] rs4363657 in nearly complete linkage disequilibrium with rs4149056 SNP (r2=0.97), which has been linked to statin metabolism. rs4149056(C) odds ratio for myopathy among 20,000 individuals taking either 40 or 80mg of simvastatin daily was 4.5 (CI: 2.6-7.7) per copy of the C allele, and 16.9 (CI: 4.7-61.1) in (C;C) as compared with (T;T) homozygotes.

See also rs4149056 for a more detailed description of the effect of SLCO1B1 gene SNPs on the metabolism of many drugs.

[PMID 23942138OA-icon.png] SLCO1B1 genetic variant associated with statin-induced myopathy: a proof-of-concept study using the clinical practice research datalink

OMIM604843
DescSOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B1; SLCO1B1
Variant
Relatedalso
[PMID 21646302OA-icon.png] Mayo Genome Consortia: A Genotype-Phenotype Resource for Genome-Wide Association Studies With an Application to the Analysis of Circulating Bilirubin Levels


[PMID 21992719OA-icon.png] SLCO1B1 rs4149056 polymorphism associated with statin-induced myopathy is differently distributed according to ethnicity in the Brazilian general population: Amerindians as a high risk ethnic group


[PMID 19414484OA-icon.png] Genome-wide association meta-analysis for total serum bilirubin levels.


[PMID 19460916OA-icon.png] Genetic architecture of type 2 diabetes: recent progress and clinical implications.


[PMID 22582980] Genetic predisposition to atorvastatin-induced myopathy: a case report.


GET Evidence
rs4363657
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.179688
summary



[PMID 23708174] Lack of association between SLCO1B1 polymorphisms and clinical myalgia following rosuvastatin therapy.


[PMID 25992810OA-icon.png] SLCO1B1 Polymorphism is not associated with Risk of Statin-Induced Myalgia/Myopathy in a Czech Population