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Updated: Sep 6, 2025

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
The clinically relevant CYP2C8*3 and CYP2C9*2 haplotype is inherited from Neandertals
Sigrid Haeggström1, Magnus Ingelman-Sundberg2, Svante Pääbo3,4
1Department of Neuroscience, Karolinska Institutet, SE-17177, Stockholm, Sweden.
Abstract:
Genetic variation in genes encoding cytochrome P450 enzymes influences the metabolism of drugs and endogenous compounds. The locus containing the cytochrome genes CYP2C8 and CYP2C9 on chromosome 10 exhibits linkage disequilibrium between the CYP2C8*3 and CYP2C9*2 alleles, forming a haplotype of ~300 kilobases. This haplotype is associated with altered metabolism of several drugs, most notably reduced metabolism of warfarin and phenytoin, leading to toxicity at otherwise therapeutic doses. Here we show that this haplotype is inherited from Neandertals.
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