Stefan Németh, Gernot Kriegshäuser, Hasmik Hayrapetyan, Christian Oberkanins, Tamara Sarkisian
{"title":"多态性 c.521T>C (rs4149056) 的等位基因频率有利于在亚美尼亚进行 SLCO1B1 基因分型。","authors":"Stefan Németh, Gernot Kriegshäuser, Hasmik Hayrapetyan, Christian Oberkanins, Tamara Sarkisian","doi":"10.1515/dmpt-2024-0018","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>Statins represent an important pharmacological factor for the prevention of cardiovascular diseases but may also cause severe cases of myotoxicity. Numerous studies have described the association of the <i>SLCO1B1</i> gene variant c.521C with statin-induced myopathy across different populations. This study aimed at evaluating the usefulness of preemptive <i>SLCO1B1</i> genotyping in Armenia.</p><p><strong>Methods: </strong>A total of 202 Armenian patients referred to the Center of Medical Genetics and Primary Health Care in Yerevan for upper respiratory tract infection between January and May 2022 were included in this study. Genotyping for <i>SLCO1B1</i> c.521T>C (rs4149056) was performed using a commercially available real-time PCR assay (RealFast™).</p><p><strong>Results: </strong>In total, 3/202 (1.5 %) samples were C/C homozygotes and 52/202 (25.7 %) were T/C heterozygotes, associated with a high and increased risk for statin-induced myopathy, respectively. The <i>SLCO1B1</i> c.521C allelic frequency was 14.4 %.</p><p><strong>Conclusions: </strong>The observed allele frequency of 14.4 % for the c.521C variant is slightly lower than frequencies reported from Europe, but relatively high compared to Asian populations, suggesting that preemptive <i>SLCO1B1</i> genotyping could be a useful approach for the reduction of statin-induced adverse effects in Armenia.</p>","PeriodicalId":11332,"journal":{"name":"Drug metabolism and personalized therapy","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Allelic frequencies of polymorphism c.521T>C (rs4149056) favor preemptive <i>SLCO1B1</i> genotyping in Armenia.\",\"authors\":\"Stefan Németh, Gernot Kriegshäuser, Hasmik Hayrapetyan, Christian Oberkanins, Tamara Sarkisian\",\"doi\":\"10.1515/dmpt-2024-0018\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objectives: </strong>Statins represent an important pharmacological factor for the prevention of cardiovascular diseases but may also cause severe cases of myotoxicity. Numerous studies have described the association of the <i>SLCO1B1</i> gene variant c.521C with statin-induced myopathy across different populations. This study aimed at evaluating the usefulness of preemptive <i>SLCO1B1</i> genotyping in Armenia.</p><p><strong>Methods: </strong>A total of 202 Armenian patients referred to the Center of Medical Genetics and Primary Health Care in Yerevan for upper respiratory tract infection between January and May 2022 were included in this study. Genotyping for <i>SLCO1B1</i> c.521T>C (rs4149056) was performed using a commercially available real-time PCR assay (RealFast™).</p><p><strong>Results: </strong>In total, 3/202 (1.5 %) samples were C/C homozygotes and 52/202 (25.7 %) were T/C heterozygotes, associated with a high and increased risk for statin-induced myopathy, respectively. The <i>SLCO1B1</i> c.521C allelic frequency was 14.4 %.</p><p><strong>Conclusions: </strong>The observed allele frequency of 14.4 % for the c.521C variant is slightly lower than frequencies reported from Europe, but relatively high compared to Asian populations, suggesting that preemptive <i>SLCO1B1</i> genotyping could be a useful approach for the reduction of statin-induced adverse effects in Armenia.</p>\",\"PeriodicalId\":11332,\"journal\":{\"name\":\"Drug metabolism and personalized therapy\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-07-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Drug metabolism and personalized therapy\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1515/dmpt-2024-0018\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/9/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"Pharmacology, Toxicology and Pharmaceutics\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Drug metabolism and personalized therapy","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1515/dmpt-2024-0018","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/9/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"Pharmacology, Toxicology and Pharmaceutics","Score":null,"Total":0}
Allelic frequencies of polymorphism c.521T>C (rs4149056) favor preemptive SLCO1B1 genotyping in Armenia.
Objectives: Statins represent an important pharmacological factor for the prevention of cardiovascular diseases but may also cause severe cases of myotoxicity. Numerous studies have described the association of the SLCO1B1 gene variant c.521C with statin-induced myopathy across different populations. This study aimed at evaluating the usefulness of preemptive SLCO1B1 genotyping in Armenia.
Methods: A total of 202 Armenian patients referred to the Center of Medical Genetics and Primary Health Care in Yerevan for upper respiratory tract infection between January and May 2022 were included in this study. Genotyping for SLCO1B1 c.521T>C (rs4149056) was performed using a commercially available real-time PCR assay (RealFast™).
Results: In total, 3/202 (1.5 %) samples were C/C homozygotes and 52/202 (25.7 %) were T/C heterozygotes, associated with a high and increased risk for statin-induced myopathy, respectively. The SLCO1B1 c.521C allelic frequency was 14.4 %.
Conclusions: The observed allele frequency of 14.4 % for the c.521C variant is slightly lower than frequencies reported from Europe, but relatively high compared to Asian populations, suggesting that preemptive SLCO1B1 genotyping could be a useful approach for the reduction of statin-induced adverse effects in Armenia.
期刊介绍：
Drug Metabolism and Personalized Therapy (DMPT) is a peer-reviewed journal, and is abstracted/indexed in relevant major Abstracting Services. It provides up-to-date research articles, reviews and opinion papers in the wide field of drug metabolism research, covering established, new and potential drugs, environmentally toxic chemicals, the mechanisms by which drugs may interact with each other and with biological systems, and the pharmacological and toxicological consequences of these interactions and drug metabolism and excretion. Topics: drug metabolizing enzymes, pharmacogenetics and pharmacogenomics, biochemical pharmacology, molecular pathology, clinical pharmacology, pharmacokinetics and drug-drug interactions, immunopharmacology, neuropsychopharmacology.
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