Pharmacogenetic DPYD allele variant frequencies: A comprehensive analysis across an ancestrally diverse Iranian population.

IF 2.5 4区 医学 Q3 PHARMACOLOGY & PHARMACY DARU Journal of Pharmaceutical Sciences Pub Date : 2024-12-01 Epub Date: 2024-10-19 DOI:10.1007/s40199-024-00538-7
Negar Sarhangi, Fatemeh Rouhollah, Negar Niknam, Farshad Sharifi, Shekoufeh Nikfar, Bagher Larijani, George P Patrinos, Mandana Hasanzad
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Abstract

Background: Cancer treatment has improved over the past decades, but many cancer patients still experience adverse drug reactions (ADRs). Pharmacogenomics (PGx), known as personalized treatment, is a pillar of precision medicine that aims to optimize the efficacy and safety of medications by studying the germline variations. Germline variations in the DPYD lead to significant ADRs. The present cross-sectional study aims to evaluate the allele frequency of the DPYD gene variations in the Iranian population to provide insights into personalized treatment decisions in the Iranian population.

Methods: The allele frequency of 51 pharmacogenetic variations in the clinically relevant DPYD was assessed in a representative sample set of 1142 unrelated Iranian individuals and subpopulations of different ethnic groups who were genotyped using the Infinium Global Screening Array-24 BeadChip.

Results: The genotyping assay revealed eight pharmacogenetic variants including DPYD rs1801265 (c.85T > C; DPYD*9A), rs2297595 (c.496A > G), rs1801158 (c.1601G > A; DPYD*4), rs1801159 (c.1627A > G; DPYD*5), rs1801160 (c.2194G > A; DPYD*6), rs17376848 (c.1896T > C), rs56038477 (c.1236G > A; HapB3), and rs75017182 (c.1129-5923C > G; HapB3) with minor allele frequency (MAF) ≥ 1%.

Conclusion: The results of the study reveal significant genetic variations among Iranian population that could significantly influence clinical decision-making. These variants, with their potential to explain the substantial variability in drug response phenotypes among different populations, shed light on a crucial aspect of pharmacogenomics. These findings not only provide valuable insights but also inspire the design and implementation of future pharmacogenomic clinical trials, motivating further research in this crucial area.

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药物基因 DPYD 等位基因变异频率:对祖先多样化的伊朗人口进行综合分析。
背景:过去几十年来,癌症治疗已得到改善,但许多癌症患者仍会出现药物不良反应(ADRs)。药物基因组学(PGx)被称为个性化治疗,是精准医疗的支柱,旨在通过研究种系变异来优化药物的疗效和安全性。DPYD 的种系变异会导致严重的 ADR。本横断面研究旨在评估伊朗人群中 DPYD 基因变异的等位基因频率,为伊朗人群的个性化治疗决策提供见解:方法:使用 Infinium Global Screening Array-24 BeadChip 对具有代表性的 1142 名无血缘关系的伊朗人和不同种族的亚人群进行基因分型,评估了与临床相关的 51 个 DPYD 药物基因变异的等位基因频率:基因分型检测发现了8个药物遗传变异,包括DPYD rs1801265 (c.85T > C; DPYD*9A)、rs2297595 (c.496A > G)、rs1801158 (c.1601G > A; DPYD*4)、rs1801159 (c.1627A>G;DPYD*5)、rs1801160(c.2194G>A;DPYD*6)、rs17376848(c.1896T>C)、rs56038477(c.1236G>A;HapB3)和 rs75017182(c.1129-5923C>G;HapB3),小等位基因频率(MAF)≥1%:研究结果揭示了伊朗人群中的重大遗传变异,这些变异可能对临床决策产生重大影响。这些变异有可能解释不同人群药物反应表型的巨大差异,从而揭示了药物基因组学的一个重要方面。这些发现不仅提供了有价值的见解,还启发了未来药物基因组学临床试验的设计和实施,推动了这一关键领域的进一步研究。
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DARU Journal of Pharmaceutical Sciences
DARU Journal of Pharmaceutical Sciences PHARMACOLOGY & PHARMACY-
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期刊介绍: DARU Journal of Pharmaceutical Sciences is a peer-reviewed journal published on behalf of Tehran University of Medical Sciences. The journal encompasses all fields of the pharmaceutical sciences and presents timely research on all areas of drug conception, design, manufacture, classification and assessment. The term DARU is derived from the Persian name meaning drug or medicine. This journal is a unique platform to improve the knowledge of researchers and scientists by publishing novel articles including basic and clinical investigations from members of the global scientific community in the forms of original articles, systematic or narrative reviews, meta-analyses, letters, and short communications.
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