Whole exome sequencing identifies rare variants involved in PPIX-metabolizing pathway in anti-TB drug-induced hepatitis.

Abstract excerpt

AIMS: To screen and validate rare variants in the protoporphyrin IX (PPIX)-metabolizing pathway associated with anti-tuberculosis drug-induced hepatitis (AT-DIH). METHODS: A two-stage matched case-control study was conducted. Firstly, a 1:1 matching design (50 cases and 50 controls) was adopted to screen for rare variants using whole exome sequencing (WES). Secondly, a 1:4 matching design (132 cases and 528...

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• Antitubercular Agents
• Case-Control Studies
• Chemical and Drug Induced Liver Injury
• Exome Sequencing
• Genetic Variation