An identification and functional evaluation of a novel CYP2C9 variant CYP2C9*62
作者： Hao Chen , Da-Peng Dai , Shan Zhou , Jian Liu , Shuang-Hu Wang
DOI: 10.1016/J.CBI.2020.109168
关键词:
摘要: Abstract Warfarin is the most commonly used anticoagulant in clinical treatment of thromboembolic diseases. The dose warfarin varies significantly within populations, and closely related to genetic polymorphisms CYP2C9 VKORC1 genes. In this study, a new nonsynonymous mutation (8576C > T) was detected after screening 162 patients took warfarin. This mutation, named as allele CYP2C9*62, can result an arginine cysteine amino acid substitution at position 125 protein (R125C). When expressed insect cells, expression CYP2C9.62 lower than that wild-type, its metabolic activity also decreased addition three typical probe drugs, suggesting mutant dramatically affect metabolism drugs vitro.
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