Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes

Autor: Ahmed El‐Boraie, Julie‐Anne Tanner, Andy Z.X. Zhu, Katrina G. Claw, Bhagwat Prasad, Erin G. Schuetz, Kenneth E. Thummel, Koya Fukunaga, Taisei Mushiroda, Michiaki Kubo, Neal L. Benowitz, Caryn Lerman, Rachel F. Tyndale
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Clinical and Translational Science, Vol 15, Iss 1, Pp 204-220 (2022)
Druh dokumentu: article
ISSN: 1752-8062
1752-8054
DOI: 10.1111/cts.13135
Popis: Abstract 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
Databáze: Directory of Open Access Journals
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