ArticlePharmacogenomics2018
RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms.
Article in Pharmacogenomics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Pharmacogenomic Study of Statin-Associated Muscle Symptoms in the ODYSSEY OUTCOMES Trial.Circulation. Genomic and precision medicine · 2022Trial
- Statins, skeletal muscle, and ryanodine receptor activation: resolving a 30-year mystery behind statin myotoxicity.Cardiovascular diabetology. Endocrinology reports · 2025Article
- Structural basis for simvastatin-induced skeletal muscle weakness associated with type 1 ryanodine receptor T4709M mutation.The Journal of clinical investigation · 2025Article
- Cryo-electron microscopy reveals sequential binding and activation of Ryanodine Receptors by statin triplets.Nature communications · 2025Article
- Unveiling the heritability of selected unexplored pharmacogenetic markers in the Saudi population.Frontiers in pharmacology · 2025Article
- Article
- A novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review.BMC pediatrics · 2023Review
- Progressive development of melanoma-induced cachexia differentially impacts organ systems in mice.Cell reports · 2023Article
- Statins Neuromuscular Adverse Effects.International journal of molecular sciences · 2022Review
- Molecular targets of statins and their potential side effects: Not all the glitter is gold.European journal of pharmacology · 2022Review
- Statin-Associated Myopathy: Emphasis on Mechanisms and Targeted Therapy.International journal of molecular sciences · 2021Review
- Statin-Induced Myopathy: Translational Studies from Preclinical to Clinical Evidence.International journal of molecular sciences · 2021Review
- PharmGKB summary: very important pharmacogene information for CACNA1S.Pharmacogenetics and genomics · 2020Article
- Pharmacogenetics of Statin-Induced Myotoxicity.Frontiers in genetics · 2020Review
- Statin-Related Myotoxicity: A Comprehensive Review of Pharmacokinetic, Pharmacogenomic and Muscle Components.Journal of clinical medicine · 2019Review
- A Mechanism for Statin-Induced Susceptibility to Myopathy.JACC. Basic to translational science · 2019Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
aimTo examine the genetic differences between subjects with statin-associated muscle symptoms and statin-tolerant controls. MATERIALS &
methodsNext-generation sequencing was used to characterize the exomes of 76 subjects with severe statin-associated muscle symptoms and 50 statin-tolerant controls.
results12 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.
conclusionsGenetic 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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Registered trials
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