Identification and functional characterization of 11 novel CYP2C19 variants in the Chinese Han population

CYP2C19 (11 novel variants, Chinese Han cohort)

Screening of Chinese Han population (n=1,000); identification of 11 unreported CYP2C19 variants; in vitro functional characterization (microsomes) → classification as PM, IM, NM or UM by residual activity

Screening of 1,000 Han Chinese individuals to identify novel CYP2C19 variants. 11 previously unreported variants are identified and functionally characterized in vitro (hepatic microsomes). Variants are classified by residual enzymatic activity as PM (3 variants), IM (5 variants) and NM (3 variants). These data expand the CYP2C19 catalog and are directly applicable for PGx panels used in Asian populations.

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Functional characterization of novel CYP2C19 variants in the Han population is essential for PGx panels used in Asia. These 11 variants, if not included in current panels, may distort predicted phenotyping. Direct relevance for PGx labs commercializing tests in East Asia.

11 novel variants + functional characterization +2; Han Chinese population (1.4 billion) +2; CYP2C19 CPIC Level A +2; Pharmacogenomics +1