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.
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.