Poornima Sivamani, Vishnu Eriyat, Sumith K Mathew, Ashish Singh, Rekha Aaron, Raju Titus Chacko, Anjana Joel, Ratna Prabha, Binu Susan Mathew
{"title":"Identification of <i>DPYD</i> 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":"<p><p><b>Aim:</b> This study aimed to identify <i>DPYD</i> variants and the related but previously unexplored phenotype (plasma uracil, dihydrouracil [DHU], and the DHU-to-uracil ratio) in a healthy adult Indian population. <b>Methods:</b> Healthy adult volunteers (n = 100) had their uracil and DHU levels measured and were genotyped for selected variants. <b>Results:</b> 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. <b>Conclusion:</b> 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.</p>","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}
引用次数: 0
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.
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.
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