Article
Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes.
Clinical and translational science - 1 Jan 2022
El-Boraie Ahmed, Tanner Julie-Anne, Zhu Andy Z X, Claw Katrina G, Prasad Bhagwat, Schuetz Erin G, Thummel Kenneth E, Fukunaga Koya, Mushiroda Taisei, Kubo Michiaki, Benowitz Neal L, Lerman Caryn, Tyndale Rachel F
Abstract excerpt
CYP2A6 activity, phenotyped by the nicotine metabolite ratio (NMR), is a predictor of several smoking behaviors, including cessation and smoking-related disease risk. The heritability of the NMR is 60-80%, yet weighted genetic risk scores (wGRSs) based on common variants explain only 30-35%. Rare variants (minor allele frequency <1%) are hypothesized to explain some of this missing heritability. We present two...
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