Rs4363657
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs4363657 |
| hapmap | rs4363657 |
| hgdp | rs4363657 |
| ensembl | rs4363657 |
| gopubmed | rs4363657 |
| scholar | rs4363657 |
| rs4363657 | |
| pharmgkb | rs4363657 |
| hgvbaseg2p | rs4363657 |
| medrefsnp | rs4363657 |
| 23andMe | rs4363657 |
| SNP Nexus |
| Gene | SLCO1B1 |
| Chromosome | 12 |
| Orientation | plus |
| Position | 21259988 |
| Genotype | Effect |
|---|---|
| rs4363657(C;C) | 17x increased myopathy risk for statin users |
| rs4363657(C;T) | 4.5x increased myopathy risk for statin users |
| rs4363657(T;T) | normal |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs4363657(C;C) | 44 | 17x increased myopathy risk for statin users |
| Rs4363657(C;T) | 2.12.1 | 4.5x increased myopathy risk for statin users |
| Rs4363657(T;T) | 00 | normal |
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.
| ? | (C;C) (C;T) (T;T) |
|---|---|
|
| |
Related to SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B1; SLCO1B1
according to omim 604843. See also
| PharmGKB | PA162356045 |
| Name | |
| Annotation | This SNP located within SLCO1B1 on chromosome 12 yielded a single strong association of myopathy in a genomewide scan. |
| Gene | SLCO1B1 |
| Featue | |
| Evidence | PubMed ID:18650507 |
| Drugs | |
| Diseases | Muscular Diseases, Myopathy, Central Core |
| Curation Level | Curated |
