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Updated: Apr 26, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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フェニトインに関連した重度の皮膚不良反応に関連する遺伝的変異

Wen-Hung Chung1, Wan-Chun Chang2, Yun-Shien Lee3

  • 1Department of Dermatology, Chang Gung Memorial Hospital, Keelung, Taiwan2Department of Dermatology, Drug Hypersensitivity Clinical and Research Center, Chang Gung Memorial Hospital, Linkou, Taiwan3College of Medicine, Chang Gung University, Taoyuan, Taiwa.

JAMA
|August 7, 2014
PubMed
まとめ

遺伝的要因,特にCYP2Cの変種であるCYP2C9*3は,フェニトインによる重度の皮膚性副作用に関連しています. これらの変異は薬のクリアランスを低下させ,これらの危険な反応のリスクを高めます.

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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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