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Article

Genotyping, characterization, and imputation of known and novel CYP2A6 structural variants using SNP array data.

Journal of human genetics - 1 Aug 2023

Langlois Alec W R, El-Boraie Ahmed, Pouget Jennie G, Cox Lisa Sanderson, Ahluwalia Jasjit S, Fukunaga Koya, Mushiroda Taisei, Knight Jo, Chenoweth Meghan J, Tyndale Rachel F

Abstract excerpt

CYP2A6 metabolically inactivates nicotine. Faster CYP2A6 activity is associated with heavier smoking and higher lung cancer risk. The CYP2A6 gene is polymorphic, including functional structural variants (SV) such as gene deletions (CYP2A6*4), duplications (CYP2A6*1 × 2), and hybrids with the CYP2A7 pseudogene (CYP2A6*12, CYP2A6*34). SVs are challenging to genotype due to their complex genetic architecture. Our...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37059825
DOI: 10.1038/s10038-023-01148-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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