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.

中文翻译：

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PharmVar 基因焦点：SLCO1B1


Pharmacogene 变异联盟 (PharmVar) 现在为编码有机阴离子转运多肽 1B1 (OATP1B1) 药物转运蛋白的高度多态性人类SLCO1B1基因提供星号 (*) 等位基因命名法。 SLCO1B1基因位点内的遗传变异会影响药物转运，从而导致几种常用处方药物的药代动力学特征发生改变。可变的 OATP1B1 功能对于他汀类药物的肝脏摄取和他汀类药物相关的肌肉骨骼症状的风险特别重要。为了将这一重要的药物转运蛋白基因引入 PharmVar 数据库并作为今后单倍型变异的统一参考，一个国际基因专家组对所有已发表的SLCO1B1明星等位基因进行了广泛的审查。先前发表的星号等位基因由作者自行指定，并且仅大致遵循最初为细胞色素 P450 基因开发的星号命名系统。该命名系统已由 PharmVar 标准化，现已应用于其他重要的药物基因，例如SLCO1B1 。此外，来自千人基因组计划的数据和研究者提交的数据被用来确认现有的单倍型、填补知识空白和/或定义新的明星等位基因。 PharmVar 开发的SLCO1B1命名法已纳入临床药物遗传学实施联盟 (CPIC) 2022 年他汀类药物相关肌肉骨骼症状指南。