在印度健康人群中DPYD变异的鉴定和尿嘧啶和二氢尿嘧啶的估计。

IF 1.7 4区医学 Q3 PHARMACOLOGY & PHARMACY

Personalized medicine Pub Date : 2023-01-01 DOI:10.2217/pme-2022-0042

Poornima Sivamani, Vishnu Eriyat, Sumith K Mathew, Ashish Singh, Rekha Aaron, Raju Titus Chacko, Anjana Joel, Ratna Prabha, Binu Susan Mathew

{"title":"在印度健康人群中DPYD变异的鉴定和尿嘧啶和二氢尿嘧啶的估计。","authors":"Poornima Sivamani, Vishnu Eriyat, Sumith K Mathew, Ashish Singh, Rekha Aaron, Raju Titus Chacko, Anjana Joel, Ratna Prabha, Binu Susan Mathew","doi":"10.2217/pme-2022-0042","DOIUrl":null,"url":null,"abstract":"Aim: This study aimed to identify DPYD variants and the related but previously unexplored phenotype (plasma uracil, dihydrouracil [DHU], and the DHU-to-uracil ratio) in a healthy adult Indian population. Methods: Healthy adult volunteers (n = 100) had their uracil and DHU levels measured and were genotyped for selected variants. Results: Among the nine variants studied, c.1906-14763G>A and c.85T>C were the most prevalent. Participants with any of the variants except for c.85T>C and c.1627A>G had a significantly lower DHU-to-uracil ratio and those with c.1905+1G>A variant had significantly increased uracil concentration compared with wild-type. Conclusion: Participants with five variants were identified as having altered phenotypic measures, and 40% of the intermediate metabolizers had their phenotype in the terminal population percentiles.","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 1","pages":"39-53"},"PeriodicalIF":1.7000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Identification of DPYD variants and estimation of uracil and dihydrouracil in a healthy Indian population.\",\"authors\":\"Poornima Sivamani, Vishnu Eriyat, Sumith K Mathew, Ashish Singh, Rekha Aaron, Raju Titus Chacko, Anjana Joel, Ratna Prabha, Binu Susan Mathew\",\"doi\":\"10.2217/pme-2022-0042\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Aim: This study aimed to identify DPYD variants and the related but previously unexplored phenotype (plasma uracil, dihydrouracil [DHU], and the DHU-to-uracil ratio) in a healthy adult Indian population. Methods: Healthy adult volunteers (n = 100) had their uracil and DHU levels measured and were genotyped for selected variants. Results: Among the nine variants studied, c.1906-14763G>A and c.85T>C were the most prevalent. Participants with any of the variants except for c.85T>C and c.1627A>G had a significantly lower DHU-to-uracil ratio and those with c.1905+1G>A variant had significantly increased uracil concentration compared with wild-type. Conclusion: Participants with five variants were identified as having altered phenotypic measures, and 40% of the intermediate metabolizers had their phenotype in the terminal population percentiles.\",\"PeriodicalId\":19753,\"journal\":{\"name\":\"Personalized medicine\",\"volume\":\"20 1\",\"pages\":\"39-53\"},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Personalized medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2217/pme-2022-0042\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"PHARMACOLOGY & PHARMACY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Personalized medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2217/pme-2022-0042","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PHARMACOLOGY & PHARMACY","Score":null,"Total":0}

引用次数: 0

摘要

目的:本研究旨在确定DPYD变异和相关但以前未被探索的表型(血浆尿嘧啶、二氢尿嘧啶[DHU]和DHU与尿嘧啶的比值)在健康的印度成年人群中。方法:健康成年志愿者(n = 100)测量尿嘧啶和DHU水平，并对选定的变异进行基因分型。结果:9个变异中以C .1906- 14763g >A和C . 85t >C最为常见。除C . 85t >C和C . 1627a >G变异外，其他变异的参与者dhh /尿嘧啶比值显著降低，而C .1905+1G> a变异的参与者尿嘧啶浓度显著高于野生型。结论:五种变异的参与者被确定为表型测量改变，40%的中间代谢物在终端人群百分位数中具有表型。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Identification of DPYD variants and estimation of uracil and dihydrouracil in a healthy Indian population.

Aim: This study aimed to identify DPYD variants and the related but previously unexplored phenotype (plasma uracil, dihydrouracil [DHU], and the DHU-to-uracil ratio) in a healthy adult Indian population. Methods: Healthy adult volunteers (n = 100) had their uracil and DHU levels measured and were genotyped for selected variants. Results: Among the nine variants studied, c.1906-14763G>A and c.85T>C were the most prevalent. Participants with any of the variants except for c.85T>C and c.1627A>G had a significantly lower DHU-to-uracil ratio and those with c.1905+1G>A variant had significantly increased uracil concentration compared with wild-type. Conclusion: Participants with five variants were identified as having altered phenotypic measures, and 40% of the intermediate metabolizers had their phenotype in the terminal population percentiles.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Personalized medicine 医学-药学

CiteScore

3.30

自引率

4.30%

发文量

审稿时长

6-12 weeks

期刊介绍： Personalized Medicine (ISSN 1741-0541) translates recent genomic, genetic and proteomic advances into the clinical context. The journal provides an integrated forum for all players involved - academic and clinical researchers, pharmaceutical companies, regulatory authorities, healthcare management organizations, patient organizations and others in the healthcare community. Personalized Medicine assists these parties to shape thefuture of medicine by providing a platform for expert commentary and analysis. The journal addresses scientific, commercial and policy issues in the field of precision medicine and includes news and views, current awareness regarding new biomarkers, concise commentary and analysis, reports from the conference circuit and full review articles.