RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms.
Pharmacogenomics
; 19(16): 1235-1249, 2018 11.
Article
em En
| MEDLINE
| ID: mdl-30325262
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 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.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Variação Genética
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Canais de Cálcio
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Inibidores de Hidroximetilglutaril-CoA Redutases
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Canal de Liberação de Cálcio do Receptor de Rianodina
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Predisposição Genética para Doença
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Doenças Musculares
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article