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在印度的一个生殖线测试队列中对临床可操作的DPYD基因变异进行机会主义分析

Rajdeep Raha¹, Rahul C Bhoyar², Ranendra Pratap Biswal²

¹Bioinformatics, Karkinos Healthcare Pvt. Ltd., Bengaluru, India.

Pharmacogenomics

|August 14, 2025

概括

狄氏胺脱酶 (DPYD) 变种在印度很常见,影响5.3%的个人. 基因定型DPYD对于预防胺化学疗法的严重药物不良反应至关重要.

科学领域:

药物基因组学药物基因组学
临床化学临床化学
遗传学遗传学是一种遗传学.

背景情况:

二胺脱酶 (DPYD) 对于代谢二胺化学疗法如5-FU至关重要.
DPYD的遗传变异可能导致酶缺乏,导致危险的药物积累和严重的不良反应.

研究的目的:

在印度队列中使用全外因子测序分析DPYD变异.
为了确定该人群中临床可操作的DPYD基因型的流行率.
将等位基因频率与全球数据集进行比较,并确定特定人口的模式.

主要方法:

1612个个体的整体外组测序.
基于功能的DPYD变异的分类 (功能下降,没有功能,可能有害).
与全球人口数据进行对等基因频率比较分析.

主要成果:

5.3%的印度队列携带了功能减弱或无功能的DPYD变体.
最常见的是c.1236G>A (HapB3) 变种,在3.28%的个体中发现.
鉴定出了不同的种群模式和新型变异,突出了对印度特定数据的需求.

结论:

预防性DPYD基因型鉴定对于减轻在接受 pyrimidine 化疗的患者的严重药物不良反应至关重要.
需要进一步的研究来描述印度人口中罕见和新型DPYD变异的特征.
这项研究代表了迄今为止印度DPYD变体的最大人口分析.

关键词:

5-FU的使用情况.DPYD的DPYD是什么意思药物基因组学药物基因组学癌症癌症癌症癌症癌症甲是一种甲.瘤学在瘤学方面.整体外因子测序的测序

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Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...