PharmVar GeneFocus: SLCO1B1.

Document Type

Article

Publication Date

4-2023

Identifier

DOI: 10.1002/cpt.2705

Abstract

The Pharmacogene Variation Consortium (PharmVar) is now providing star (*) allele nomenclature for the highly polymorphic human SLCO1B1 gene encoding the organic anion transporting polypeptide 1B1 (OATP1B1) drug transporter. Genetic variation within the SLCO1B1 gene locus impacts drug transport, which can lead to altered pharmacokinetic profiles of several commonly prescribed drugs. Variable OATP1B1 function is of particular importance regarding hepatic uptake of statins and the risk of statin-associated musculoskeletal symptoms. To introduce this important drug transporter gene into the PharmVar database and serve as a unified reference of haplotype variation moving forward, an international group of gene experts has performed an extensive review of all published SLCO1B1 star alleles. Previously published star alleles were self-assigned by authors and only loosely followed the star nomenclature system that was first developed for cytochrome P450 genes. This nomenclature system has been standardized by PharmVar and is now applied to other important pharmacogenes such as SLCO1B1. In addition, data from the 1000 Genomes Project and investigator-submitted data were utilized to confirm existing haplotypes, fill knowledge gaps, and/or define novel star alleles. The PharmVar-developed SLCO1B1 nomenclature has been incorporated by the Clinical Pharmacogenetics Implementation Consortium (CPIC) 2022 guideline on statin-associated musculoskeletal symptoms.

Journal Title

Clinical pharmacology and therapeutics

Volume

113

Issue

4

First Page

782

Last Page

793

MeSH Keywords

Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Haplotypes; Cytochrome P-450 Enzyme System; Alleles; Pharmacogenetics; Liver-Specific Organic Anion Transporter 1

Keywords

Hydroxymethylglutaryl-CoA Reductase Inhibitors; Haplotypes; Cytochrome P-450 Enzyme System; Alleles; Pharmacogenetics; Liver-Specific Organic Anion Transporter 1

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