Transplant Co-Morbidity Superpanel

Gene: SLCO1B1

Green List (high evidence)

It is involved in guidelines for statins including CPIC guidelines for atorvastatin, simvastatin, and rosuvastatin. It is also implicated in a range of pharmacogenomic responses: https://www.pharmgkb.org/gene/PA134865839

Rotor type hyperbilirubinemia (HBLRR) is caused by digenic inheritance of homozygous mutations in the SLCO1B1 (MIM# 604843) and SLCO1B3 (MIM# 605495) genes. Van de Steeg et al. (2012) (PMID: 22232210) suggested that individuals with Rotor syndrome may also be at increased risk for drug toxicity, since these proteins are involved in the clearance of drug conjugates. SLCO1B1 single nucleotide polymorphisms and haplotypes have been implicated in altered pharmacokinetic handling and pharmacodynamic response

The solute carrier organic anion transporter family member 1B1 (SLCO1B1) gene encodes for a membrane-bound sodium-independent organic anion transporter protein (OATP1B1). OATP1B1 mediates active transport of many endogenous substrates, such as bile acids, xenobiotic compounds, and a wide panel of pharmaceutical compounds. (PMID: 19952871)

SLCO1B1 variants are known to be a strong predictor of statin-associated muscle symptoms (SAMS) risk with simvastatin (PMID: 5152405).

Allelic variants of SLCO1B1 and ABCB1 predict the lipid-lowering efficacy of atorvastatin (PMID:35968761).
Sources: Expert list

Created: 25 Aug 2023, 12:15 a.m.

Mode of inheritance
Other

Phenotypes
Hyperbilirubinemia, Rotor type, digenic MIM# 237450

Publications

• 19952871
• 5152405
• 35968761