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Defective Alleles in Liver Enzymes Linked to Poor Drug Metabolism

liver highlighted in red inside the human body

NIEHS researchers in the Human Metabolism Group announced the identification and functional characterization of potentially defective alleles in human liver enzymes that are responsible for metabolizing therapeutic drugs, including anti-clotting medications and antidepressants. Genetic polymorphisms in the enzyme result in poor metabolism of the drugs. The researchers focused on single nucleotide polymorphisms (SNPs) in CYPC19.

Tags: genes, polymorphisms


Blaisdell J , Mohrenweiser H , Jackson J , Ferguson S , Coulter S , Chanas B , Xi T , Ghanayem B , Goldstein JA . 2002. Identification and functional characterization of new potentially defective alleles of human CYP2C19. Pharmacogenetics. 12(9):703-711. [Abstract]

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