학술논문
RYR1and CACNA1Sgenetic variants identified with statin-associated muscle symptoms
Document Type
Article
Author
Source
Pharmacogenomics; November 2018, Vol. 19 Issue: 16 p1235-1249, 15p
Subject
Language
ISSN
14622416; 17448042
Abstract
Aim:To examine the genetic differences between subjects with statin-associated muscle symptoms and statin-tolerant controls. Materials & methods:Next-generation sequencing was used to characterize the exomes of 76 subjects with severe statin-associated muscle symptoms and 50 statin-tolerant controls. Results:12 probably pathogenic variants were found within the RYR1and CACNA1Sgenes in 16% of cases with severe statin-induced myopathy representing a fourfold increase over variants found in statin-tolerant controls. Subjects with probably pathogenic RYR1or CACNA1Svariants had plasma CK 5X to more than 400X the upper limit of normal in addition to having muscle symptoms. Conclusions:Genetic variants within the RYR1and CACNA1Sgenes are likely to be a major contributor to the susceptibility to statin-associated muscle symptoms.