A latest study found an intronic variant (rs6667912) located within TMEM9 that was significantly associated with clinical statin-associated muscle symptoms (SAMS). The study was published in the journal – Circulation: Genomic and Precision Medicine.
Statin therapies are known to frequently show adverse events like SAMS. This double-blind, randomized, placebo controlled clinical trial was conducted to study the safety and efficacy of alirocumab in patients with acute coronary syndrome receiving high-intensity statin therapy. The aim of this study was to recognize genetic variants related to atorvastatin and rosuvastatin-mediated SAMS.
Subjects with 2 phenotypes (clinical SAMS and creatine kinase levels) were included in the study and a multi-ancestry genome-wide association study was carried out.
A new genome-wide association for an intronic variant (rs6667912), situated within TMEM9 in patients showing clinical SAMS was identified. This intronic variant was present almost 30kb upstream of CACNA1S, a locus identified in people with severe SAMS. Also, 2 loci, at LINC0093 and LILRB5, which were earlier associated with creatine kinase levels, were identified.
Thus TMEM9 is associated with clinical SAMS and the previously identified loci LINC0093 and LILRB5 are associated with creatine kinase levels in patients with acute coronary syndrome receiving atorvastatin and rosuvastatin.