斯里兰卡南亚人群中影响他汀类药物疗效和毒性的药物基因组变异

IF 1.9 4区 医学 Q3 PHARMACOLOGY & PHARMACY Pharmacogenomics Pub Date : 2023-10-01 Epub Date: 2023-10-25 DOI:10.2217/pgs-2023-0149
Priyanga Ranasinghe, Nirmala Sirisena, Jeremy N Ariadurai, Thuwaragesh Vishnukanthan, Sathsarani Thilakarathne, Gayani Anandagoda, Vajira Hw Dissanayake
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引用次数: 0

摘要

目的:描述斯里兰卡人他汀类药物的药物遗传变异的多样性。材料与方法:从426名斯里兰卡人的匿名数据库中获得相关基因的变异数据。将次要等位基因频率(MAFs)与其他人群的已发表数据进行比较。结果:SLCO1B1*5(rs4149056[T>C])的MAF为18.19%(95%CI:14.53-21.85),CYP2C9*2(rs1799853[C>T])和CYP2C9*3(rs1057910[A>C]。rs2231142(G>T)(ABCG2)、rs7412(C>T)和rs20455(A>G)(KIF6)变体的MAF分别为10.68%(95%CI:7.76-13.60)、3.52%(95%CI:1.77-5.27)和50.7%(95%CI:45.96-55.45)。与西方/其他亚洲人群相比,斯里兰卡人的rs20455(A>G)、CYP2C9*3(A>C)和SLCO1B1*5(T>C)变体显著较高。结论:与西方人群相比,影响他汀类药物疗效(KIF6[rs20455]、CYP2C9*3)和增加他汀类药物诱导的肌肉毒性风险(SLCO1B1*5和CYP2C9*5)的变体在斯里兰卡人群中流行的频率更高。
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Pharmacogenomic variants affecting efficacy and toxicity of statins in a south Asian population from Sri Lanka.

Aim: To describe the diversity of pharmacogenetic variants of statins among Sri Lankans. Materials & methods: Variant data of relevant genes were obtained from an anonymized database of 426 Sri Lankans. Minor allele frequencies (MAFs) were compared with published data from other populations. Results: The MAF of SLCO1B1*5 (rs4149056 [T>C]) was 18.19% (95% CI: 14.53-21.85). MAFs of CYP2C9*2 (rs1799853 [C>T]) and CYP2C9*3 (rs1057910 [A>C]) were 2.58% (95% CI: 1.08-4.08) and 10.30% (95% CI: 7.75-13.61), respectively. MAFs of rs2231142 (G>T) (ABCG2), rs7412 (C>T) (APOE) and rs20455 (A>G) (KIF6) variants were 10.68% (95% CI: 7.76-13.60), 3.52% (95% CI: 1.77-5.27) and 50.7% (95% CI: 45.96-55.45), respectively. Compared with western/other Asian populations, rs20455 (A>G), CYP2C9*3 (A>C) and SLCO1B1*5 (T>C) variants were significantly higher in Sri Lankans. Conclusion: Variants that affect efficacy of statins (KIF6 [rs20455], CYP2C9*3) and increase risk of statin-induced myotoxicity (SLCO1B1*5 and CYP2C9*3) were prevalent in higher frequencies among Sri Lankans compared with western populations.

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来源期刊
Pharmacogenomics
Pharmacogenomics 医学-药学
CiteScore
3.40
自引率
9.50%
发文量
88
审稿时长
4-8 weeks
期刊介绍: Pharmacogenomics (ISSN 1462-2416) is a peer-reviewed journal presenting reviews and reports by the researchers and decision-makers closely involved in this rapidly developing area. Key objectives are to provide the community with an essential resource for keeping abreast of the latest developments in all areas of this exciting field. Pharmacogenomics is the leading source of commentary and analysis, bringing you the highest quality expert analyses from corporate and academic opinion leaders in the field.
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