Statin-Induced Myopathy targeted mutation analysis

Published 25/03/2021

Statin-Induced Myopathy targeted mutation analysis 

Genes: SLCO1B1
Lab method: Sanger sequencing
No of
detectable
markers:		 1 (c.521T>C)
TAT: 2 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

100 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Risk assessment for developing statin-induced myopathy
  2. Optimizing the statin dose

Statins inhibit the synthesis of cholesterol and promote the production of low density lipoprotein (LDL)-binding receptors in the liver resulting in an unusually marked decrease in the level of LDL, and a modest increase in the level of high density lipoprotein (HDL) circulating in blood plasma. Therefore, statin drugs are the primary pharmacologic treatment for hypercholesterolemia and coronary artery disease worldwide.

Despite their demonstrated safety and efficacy, 25% to 50% of individuals with cardiovascular disease are nonadherent with statin medications after one year. Although there may be multiple contributing factors, many experts report that a contributor to statin nonadherence is associated with side effects, including skeletal muscle toxicity due to poor or compromised metabolism of statin drugs.

Statin-induced myopathy has been associated with SLCO1B1 gene variant NM_006446.4:c.521T>C (rs4149056). The risk of myopathy may be substantially increased in patients who take 80 mg of simvastatin daily, as well as in those who are also receiving certain other drugs.

References:

Ramsey LB et al. The clinical pharmacogenetics implementation consortium guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update. Clin Pharmacol Ther. 2014 Oct;96(4):423-8.
EARCH Collaborative Group et al. SLCO1B1 variants and statin-induced myopathy–a genomewide study. N Engl J Med. 2008 Aug 21;359(8):789-99
Tomaszewski M et al. Statin-induced myopathies. Pharmacol Rep. 2011;63(4):859-66.

Asper Biotech’s new collaboration project

Published 02/10/2013

Asper Biotech is participating in a new collaboration project PREDICTION-ADR – Personalisation of tREatment In Cardiovascular disease through next generation sequencing in Adverse Drug Reactions. The new European-wide study led by the University of Dundee is set to investigate whether genetic research could be used to predict the side effects of statins and ACE inhibitors.

“Statins and ACE inhibitors are the most effective drugs at preventing cardiovascular disease, but they need to be used better,” said Professor Colin Palmer, from the University of Dundee, who is leading the study.

With the advent of affordable whole genome sequencing, genetic research is now at the point where it can be effectively used to identify `biomarkers’ which signal whether a patient can take the drugs safely or not.

The aim of the trial is to identify reliable biomarkers, which could then be developed into a commercially available clinical test. Partners of the study include the Universities of Liverpool, Utrecht, Uppsala and the private sector firm PGXIS. The study is funded with a €3million grant through the European Union FP7 Health project.