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The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
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Hyperlipidemia, a medical condition often referred to as high cholesterol, is characterized by abnormally elevated levels of lipids in the bloodstream. When present in excess, these lipids, specifically cholesterol and triglycerides, can lead to serious health complications, often involving cardiovascular diseases. Illnesses like atherosclerosis, heart attacks, and pancreatitis have all been linked to untreated hyperlipidemia. This means controlling and regulating cholesterol and triglyceride...
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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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LDL Cholesterol Uptake Assay Using Live Cell Imaging Analysis with Cell Health Monitoring
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SLCO1B1 Polymorphisms and Statin-Induced Myopathy.

Alison Stewart1

  • 1McKing Consulting Corp., Atlanta, Georgia, USA; Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

Plos Currents
|January 25, 2014
PubMed
Summary

Genetic testing for the SLCO1B1 rs4149056 single-nucleotide polymorphism (SNP) shows potential for predicting statin-induced myopathy. Further research is needed to establish its clinical utility in guiding statin therapy.

Area of Science:

  • Pharmacogenomics
  • Cardiovascular Medicine
  • Clinical Chemistry

Background:

  • Statins effectively lower LDL-cholesterol and reduce cardiovascular events.
  • Statin use can cause muscle symptoms, including rare but severe rhabdomyolysis.
  • The SLCO1B1 rs4149056 (c.521T>C) single-nucleotide polymorphism (SNP) is associated with simvastatin-induced myopathy.

Purpose of the Study:

  • To review evidence on the analytical validity, clinical validity, and clinical utility of SLCO1B1 rs4149056 genotyping.
  • To assess the potential of this genotyping to guide statin selection and dosage.
  • To minimize statin-induced myopathy and improve patient adherence to therapy.

Main Methods:

  • Review of evidence on genotyping assays for the rs4149056 SNP.

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  • Analysis of clinical sensitivity, specificity, and predictive values from the SEARCH study.
  • Evaluation of existing data for clinical utility and comparison with other risk factors.

    • Main Results:

    • Genotyping assays for rs4149056 appear robust and accurate.
    • In the SEARCH study, the C allele test for myopathy prediction showed 70.4% sensitivity and 73.7% specificity.
    • Positive predictive value for myopathy was low (4.1%), while negative predictive value was high (99.4%).

    Conclusions:

    • SLCO1B1 rs4149056 genotyping demonstrates analytical validity.
    • Further studies are needed to compare its clinical validity against other myopathy risk scores.
    • Direct evidence for the clinical utility of genotype-guided statin prescription is currently lacking.