巴西混血队列和全球人群的精神病 1A 级证据药物基因组学。

IF 1.9 4区 医学 Q3 PHARMACOLOGY & PHARMACY
Pharmacogenomics Pub Date : 2024-01-01 Epub Date: 2024-01-30 DOI:10.2217/pgs-2023-0211
Helena Pereira Ribeiro, Beatriz Meza Baraldi, Fernanda Rodrigues-Soares, Aline Cristiane Planello
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引用次数: 0

摘要

目的:比较巴西混血队列与全球人群及其他巴西群体中精神病药物反应变异的小等位基因频率(MAFs)。方法从公开的基因数据集中收集巴西和全球的 PharmGKB MAFs。结果在 CYP2D6 和 CYP2C19 的 146 个变体中,有 41 个存在于巴西,其中大部分为罕见变体(MAF CYP2C19*3 (rs4986893)、CYP2C19*17 (rs12248560)、CYP2D6*17 (rs28371706-A) 和 CYP2D6*29 (rs61736512)在巴西的频率较高,后三个变体也与其他巴西群体不同。结论这项研究凸显了巴西乃至全球药物基因组学的显著多样性,强调了在个性化精神疾病药物治疗方面开展更多研究的必要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Psychiatric Level 1A evidence pharmacogenomics in a Brazilian admixed cohort and global populations.

Purpose: To compare minor allele frequencies (MAFs) of psychiatric drug response variants in a Brazilian admixed cohort with global populations and other Brazilian groups. Methods: PharmGKB MAFs were gathered from publicly available genetic datasets for Brazil and worldwide. Results: Among 146 variants in CYP2D6 and CYP2C19, 41 were present in Brazil, mostly rare (MAF <1%). 11 variants showed significant MAF differences with large effect sizes compared with global populations. CYP2C19*3 (rs4986893), CYP2C19*17 (rs12248560), CYP2D6*17 (rs28371706-A) and CYP2D6*29 (rs61736512) exhibited higher frequencies in Brazil, with the latter three also differing from other Brazilian groups. Conclusion: This study highlights significant pharmacogenomic diversity in Brazil and globally, underscoring the need for more research in personalized psychiatric drug therapy.

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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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