rs4363657

This variant is located in the SLCO1B1 gene.

GWAS Catalog Trait Associations (8)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

21-hydroxypregnenolone disulfate measurement

Allele T
OR 0.20
p 2.0e-49
N 14,296
Large GWAS
European

4-androsten-3beta,17beta-diol disulfate 2 measurement

Allele T
OR 0.19
p 8.0e-43
N 14,296
Large GWAS
European

monocyte percentage of leukocytes

Allele C
OR 0.02
p 9.0e-15
N 394,642
Large GWAS
European

mannose-binding protein C measurement

Allele C
OR 0.04
p 2.0e-14
N 47,745
Large GWAS
European

monocyte count

Allele C
OR 0.02
p 1.0e-11
N 394,642
Large GWAS
European

trait in response to atorvastatin

Mykkänen AJH et al. Genome-Wide Association Study of Atorvastatin Pharmacokinetics: Associations With SLCO1B1, UGT1A3, and LPP. Clinical Pharmacology and Therapeutics 115(6):1428-1440 (2024)
Allele A
OR 0.30
p 5.0e-10
N 243
Small GWAS
European

Research that mentions this SNP (1)

Correlation between single-nucleotide polymorphisms and statin-induced myopathy: a mixed-effects model meta-analysis
Meta-analysisN=21,692Qian Xiang et al.(2021)· European Journal of Clinical Pharmacology

A meta-analysis of 32 studies (21,692 individuals) examined SNPs associated with statin-induced myopathy (SIM). SLCO1B1 rs4149056 C allele significantly increased SIM risk in heterozygous (OR ~1.58), homozygous (OR ~4.47), dominant (OR ~1.89), and recessive (OR ~4.54) models. SLCO1B1 rs4363657 C allele was protective, and GATM rs9806699 A allele carriers had lower SIM risk with rosuvastatin treatment.

Traits studied:Elevated creatine kinaseMuscle injuryMuscle weaknessMyalgiaMyopathyRhabdomyolysisStatin-induced myopathy

About SLCO1B1

This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009]

View all SLCO1B1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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