通过整合基因组规模数据剖析南亚人群中DPYD基因变异的药物遗传学图谱
Pharmacogenetic landscape of DPYD variants in south Asian populations by integration of genome-scale data.
作者信息
Hariprakash Judith M, Vellarikkal Shamsudheen K, Keechilat Pavithran, Verma Ankit, Jayarajan Rijith, Dixit Vishal, Ravi Rowmika, Senthivel Vigneshwar, Kumar Anoop, Sehgal Paras, Sonakar Akhilesh K, Ambawat Sakshi, Giri Anil K, Philip Arun, Sivadas Akhila, Faruq Mohammed, Bharadwaj Dwaipayan, Sivasubbu Sridhar, Scaria Vinod
机构信息
GN Ramachandran Knowledge Center for Genome Informatics, CSIR Institute of Genomics & Integrative Biology, Mathura Road, Delhi 110025, India.
Genomics & Molecular Medicine, CSIR Institute of Genomics & Integrative Biology, Mathura Road, Delhi 110025, India.
出版信息
Pharmacogenomics. 2018 Feb;19(3):227-241. doi: 10.2217/pgs-2017-0101. Epub 2017 Dec 14.
AIM
Adverse drug reactions to 5-Fluorouracil(5-FU) is frequent and largely attributable to genetic variations in the DPYD gene, a rate limiting enzyme that clears 5-FU. The study aims at understanding the pharmacogenetic landscape of DPYD variants in south Asian populations.
MATERIALS & METHODS: Systematic analysis of population scale genome wide datasets of over 3000 south Asians was performed. Independent evaluation was performed in a small cohort of patients.
RESULTS
Our analysis revealed significant differences in the the allelic distribution of variants in different ethnicities.
CONCLUSIONS
This is the first and largest genetic map the DPYD variants associated with adverse drug reaction to 5-FU in south Asian population. Our study highlights ethnic differences in allelic frequencies.
目的
5-氟尿嘧啶（5-FU）的药物不良反应很常见，这在很大程度上归因于二氢嘧啶脱氢酶（DPYD）基因的遗传变异，该酶是清除5-FU的限速酶。本研究旨在了解南亚人群中DPYD变异的药物遗传学情况。
材料与方法
对3000多名南亚人的全基因组数据集进行了系统分析。在一小群患者中进行了独立评估。
结果
我们的分析揭示了不同种族中变异等位基因分布的显著差异。
结论
这是南亚人群中与5-FU药物不良反应相关的DPYD变异的首张也是最大的遗传图谱。我们的研究突出了等位基因频率的种族差异。
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