Pharmacogenomic analysis and clinical annotation of 635 patients.

Personalized medicine Pub Date : 2025-04-17 DOI:10.1080/17410541.2025.2493606

Özkan Bağcı, Batuhan Şanlıtürk, Ebru Marzioğlu Özdemir, Nadir Koçak, Tülin Cora

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Abstract

Aim: In this study, we aimed to reveal the sequence analysis of 69 pharmacogenes in 635 patients and the clinical explanation of variants.

Materials and methods: Genomic DNA was isolated from peripheral blood of patients. Next-Generation Sequence analysis and bioinformatic analysis were performed to identify 69 pharmacogene variants. Variants with clinical annotation were identified.

Results: Analysis of 69 pharmacogenes in a total of 635 patients identified 9485 variants. The number of distinct variants identified in each gene was 1409. Of these 1409 variants, the number of variants registered in PharmGKB was 126. Among the 126 variants registered in PharmGKB, 26 variants were identified that had a direct association with clinical annotation and drug efficacy or toxicity. The most common variant genes were DPYD, CYP2C19, VKORC1,UGT1A1, RYR1 and MTHFR. These 26 variants with clinical annotation were identified in 327 (51%) different individuals.

Conclusions: Such a high frequency of critical variants (51%) points to the need for pharmacogenetic studies. The results are extremely important in terms of determining the drug dose according to the genomic status of individuals receiving drug therapy and preventing unnecessary health expenditures.

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635例患者的药物基因组学分析及临床注释。

目的：本研究旨在揭示635例患者69个药原基因的序列分析及变异的临床解释。材料和方法：从患者外周血中分离基因组DNA。下一代序列分析和生物信息学分析鉴定了69个药物基因变异。鉴定出具有临床注释的变异。结果：对635例患者69个药原基因进行分析，鉴定出9485个变异。每个基因中鉴定出的不同变异数为1409个。在这1409个变体中，在PharmGKB中注册的变体数量为126个。在PharmGKB中登记的126个变异中，鉴定出26个变异与临床注释和药物疗效或毒性直接相关。最常见的变异基因为DPYD、CYP2C19、VKORC1、UGT1A1、RYR1和MTHFR。这26个具有临床注释的变异在327个（51%）不同的个体中被鉴定出来。结论：如此高的关键变异频率（51%）表明需要进行药物遗传学研究。在根据接受药物治疗的个体的基因组状况确定药物剂量和防止不必要的卫生支出方面，这些结果极为重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Personalized medicine

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