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Human Genetics Disorders

Numerous clinical factors have been associated with SIM including age, gender, body-mass-index, exercise, comorbidities, duration of statin use, statin dose, type of statin, and the use of concomitant medications. One of the most important risk factors for SIM, which could be the result of the aforementioned clinical factors, is increased exposure (systemic or intra-organ concentrations) to the statin and its metabolites. Variants in the genes involved in statin pharmacokinetics (i.e., statin metabolizing enzymes and transporters) affect statin exposure in vivo and have been further linked to SIM clinical outcome. Therefore, pharmacogenetic testing of pharmacokinetic genetic variants is one possible strategy for predicting or mitigating SIM. Indeed, the data supporting the association between a variant (rs4149056; T521C; Val174Ala) in SLCO1B1 (the gene encoding the solute carrier organic anion transporter family member 1B1) and simvastatin-induced myopathy was so strong that the Clinical Pharmacogenetics Implementation Consortium (CPIC) wrote guidelines for simvastatin therapy based on SLCO1B1 T521C genotype. Jasmine A. Talameh, Pharmacogenetics of Statin-Induced Myopathy: A Focused Review of the Clinical Translation of Pharmacokinetic Genetic Variants.
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Last date updated on June, 2014

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