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Updated: Feb 3, 2026
Functional Characterization of Endogenously Expressed Human RYR1 Variants
Published on: June 9, 2021
RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms
Paul J Isackson1, Jianxin Wang2, Mohammad Zia2
1Department of Pediatrics, State University of New York at Buffalo, NY 14203, USA.
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 RYR1 and CACNA1S genes in 16% of cases with severe statin-induced myopathy representing a fourfold increase over variants found in statin-tolerant controls. Subjects with probably pathogenic RYR1 or CACNA1S variants had plasma CK 5X to more than 400X the upper limit of normal in addition to having muscle symptoms.
Conclusions:
Genetic variants within the RYR1 and CACNA1S genes are likely to be a major contributor to the susceptibility to statin-associated muscle symptoms.
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