Abstract：
OBJECTIVE: 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.
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.
摘要：
目的：他汀类药物是预防心血管疾病的重要药理因子，但也可能引起严重的肌毒性。许多研究已经描述了SLCO1B1基因变异c.521C与他汀类药物诱导的肌病在不同人群中的关联。本研究旨在评估亚美尼亚抢先SLCO1B1基因分型的有用性。
方法：本研究纳入了2022年1月至5月期间因上呼吸道感染转诊到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。使用市售实时PCR测定(RealFast™)进行SLCO1B1c.521T>C(rs4149056)的基因分型。
结果：总计，3/202(1.5%)为C/C纯合子,52/202(25.7%)为T/C杂合子,与他汀类药物诱导的肌病的高风险相关，分别。SLCO1B1c.521C等位基因频率为14.4%。
结论：观察到的c.521C变体的等位基因频率为14.4％，略低于欧洲报告的频率，但与亚洲人口相比相对较高，提示在亚美尼亚,先发制人SLCO1B1基因分型可能是减少他汀类药物引起的不良反应的有用方法.
方法：本研究纳入了2022年1月至5月期间因上呼吸道感染转诊到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。使用市售实时PCR测定(RealFast™)进行SLCO1B1c.521T>C(rs4149056)的基因分型。
结果：总计，3/202(1.5%)为C/C纯合子,52/202(25.7%)为T/C杂合子,与他汀类药物诱导的肌病的高风险相关，分别。SLCO1B1c.521C等位基因频率为14.4%。
结论：观察到的c.521C变体的等位基因频率为14.4％，略低于欧洲报告的频率，但与亚洲人口相比相对较高，提示在亚美尼亚,先发制人SLCO1B1基因分型可能是减少他汀类药物引起的不良反应的有用方法.
