Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene
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- 作者：André ; B.P. van Kuilenburga ; a.b.vankuilenburg@amc.uva.nl" class="auth_mail" title="E-mail the corresponding author ; Judith Meijera ; Michael W.T. Tancka ; Doreen Dobritzschb ; Lida Zoetekouwa ; Lois-Lee Dekkersc ; Jeroen Roelofsena ; Rutger Meinsmaa ; Machteld Wymengad ; Wim Kulika ; Barbara Bü ; chele ; Raoul C.M. Hennekama ; Carlo R. Largiadè ; re
- 关键词：Dihydropyrimidine dehydrogenase ; DPYD ; 5-Fluorouracil ; Pharmacogenetics ; Pyrimidine metabolism
- 刊名：Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
- 出版年：2016
- 出版时间：April 2016
- 年：2016
- 卷：1862
- 期：4
- 页码：754-762
- 全文大小：1222 K
文摘
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In-depth analysis of genetic variants in DPYD and functional consequences
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Specific DPYD variants and haplotypes are associated with altered DPD activity.
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DPD activity is associated with uracil concentration but not with U/UH2.
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Eight mutant DPD enzymes show a reduced DPD activity.
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Apparent homozygosity for p.D949V is associated with grade IV toxicity.