Allelic frequencies of polymorphism c.521T>C (rs4149056) favor preemptive SLCO1B1 genotyping in Armenia.

Q2 Pharmacology, Toxicology and Pharmaceutics Drug metabolism and personalized therapy Pub Date : 2024-07-15 DOI:10.1515/dmpt-2024-0018

Stefan Németh, Gernot Kriegshäuser, Hasmik Hayrapetyan, Christian Oberkanins, Tamara Sarkisian

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Abstract

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.

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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。

目的：他汀类药物是预防心血管疾病的重要药理因素，但也可能导致严重的肌毒性。大量研究表明，在不同人群中，SLCO1B1 基因变异 c.521C 与他汀类药物诱发的肌病存在关联。本研究旨在评估在亚美尼亚进行先期 SLCO1B1 基因分型的实用性：本研究共纳入了 2022 年 1 月至 5 月间因上呼吸道感染转诊至埃里温医学遗传学和初级卫生保健中心的 202 名亚美尼亚患者。使用市售的实时 PCR 分析法（RealFast™）对 SLCO1B1 c.521T>C (rs4149056) 进行基因分型：总共有 3/202 份样本（1.5%）是 C/C 同源基因，52/202 份样本（25.7%）是 T/C 杂合子，分别与他汀类药物诱发肌病的高风险和高风险有关。SLCO1B1 c.521C等位基因频率为14.4%：观察到的c.521C等位基因频率为14.4%，略低于欧洲报告的频率，但与亚洲人群相比相对较高，这表明在亚美尼亚，预先进行SLCO1B1基因分型可能是减少他汀类药物诱发不良反应的有效方法。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Drug metabolism and personalized therapy Pharmacology, Toxicology and Pharmaceutics-Pharmacology, Toxicology and Pharmaceutics (all)

CiteScore

2.30

自引率

0.00%

发文量

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.