RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms

To examine the genetic differences between subjects with statin-associated muscle symptoms and statin-tolerant controls. Next-generation sequencing was used to characterize the exomes of 76 subjects with severe statin-associated muscle symptoms and 50 statin-tolerant controls. 12 probably pathogenic...

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Veröffentlicht in:	Pharmacogenomics 2018-11, Vol.19 (16), p.1235-1249
Hauptverfasser:	Isackson, Paul J, Wang, Jianxin, Zia, Mohammad, Spurgeon, Paul, Levesque, Adrian, Bard, Jonathan, James, Smitha, Nowak, Norma, Lee, Tae Keun, Vladutiu, Georgirene D
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Aged, 80 and over Calcium Channels - genetics Calcium Channels, L-Type Case-Control Studies Congenital diseases Female Fever Genes Genetic diversity Genetic Predisposition to Disease - genetics Genetic Variation - genetics Humans Hydroxymethylglutaryl-CoA Reductase Inhibitors - adverse effects Hyperthermia Male Metabolism Middle Aged Muscular Diseases - chemically induced Muscular Diseases - genetics Musculoskeletal system Mutation Myopathy Next-generation sequencing Pain Patients Plasma Questionnaires Retrospective Studies Ryanodine Receptor Calcium Release Channel - genetics Ryanodine receptors Statins Studies
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