Natasha J Petry, Amanda Massmann, Megan Bell, April Schultz, Joel Van Heukelom
{"title":"Incidence of statin-associated muscle symptoms in patients taking statins with <i>RYR1</i> or <i>CACNA1S</i> variants.","authors":"Natasha J Petry, Amanda Massmann, Megan Bell, April Schultz, Joel Van Heukelom","doi":"10.1080/17410541.2024.2342223","DOIUrl":null,"url":null,"abstract":"<p><p><b>Background:</b> Statins are commonly used medications. Variants in <i>SLCO1B1</i>, <i>CYP2C9</i>, and <i>ABCG2</i> are known predictors of muscle effects when taking statins. More exploratory genes include <i>RYR1</i> and <i>CACNA1S</i>, which can also be associated with disease conditions. <b>Methods:</b> Patients with pathogenic/likely pathogenic variants in <i>RYR1</i> or <i>CACNA1S</i> were identified through an elective genomic testing program. Through chart review, patients with a history of statin use were assessed for statin-associated muscle symptoms (SAMS) along with collection of demographics and other known risk factors for SAMS. <b>Results:</b> Of the 23 patients who had a pathogenic or likely pathogenic <i>RYR1</i> or <i>CACNA1S</i> variant found, 12 had previous statin use; of these, SAMS were identified in four patients. <b>Conclusion:</b> These data contribute to previous literature suggesting patients with <i>RYR1</i> variants may have an increased SAMS risk. Additional research will be helpful in further investigating this relationship and providing recommendations.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"145-150"},"PeriodicalIF":0.0000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Personalized medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1080/17410541.2024.2342223","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/9 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Background: Statins are commonly used medications. Variants in SLCO1B1, CYP2C9, and ABCG2 are known predictors of muscle effects when taking statins. More exploratory genes include RYR1 and CACNA1S, which can also be associated with disease conditions. Methods: Patients with pathogenic/likely pathogenic variants in RYR1 or CACNA1S were identified through an elective genomic testing program. Through chart review, patients with a history of statin use were assessed for statin-associated muscle symptoms (SAMS) along with collection of demographics and other known risk factors for SAMS. Results: Of the 23 patients who had a pathogenic or likely pathogenic RYR1 or CACNA1S variant found, 12 had previous statin use; of these, SAMS were identified in four patients. Conclusion: These data contribute to previous literature suggesting patients with RYR1 variants may have an increased SAMS risk. Additional research will be helpful in further investigating this relationship and providing recommendations.