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Smoking and Genetics

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Handbook of Substance Misuse and Addictions

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Abstract

Tobacco smoking is a complex phenotype that is directly associated with early death and morbidity. The genetic and environmental factors affecting several smoking-related phenotypes have been studied in many different designs including family, twin, and genome-wide association studies. In this regard it may be the best studied substance use disorder; however, while overall heritability for several smoking phenotypes seem to be moderately high, the function of discovered genetic variants remains largely unexplored. Several studies indicate that genetic variation in and around nicotinic acetylcholine receptor subunits and CYP2A6, involved in nicotine catabolism, are strongly associated with several smoking phenotypes, while other discovered variants implicate dopamine, glycogenesis, and epigenetic gene regulation. This chapter explores current knowledge of genetics of smoking behavior phenotypes and future perspectives.

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Abbreviations

CO:

Carbon monoxide

CPD:

Cigarettes per day

GWAS:

Genome-wide association studies

nAChR(s):

Nicotinic acetylcholine receptor(s)

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Author information

Authors and Affiliations

  1. Department of Clinical Biochemistry, Copenhagen University Hospital – Herlev and Gentofte Hospital, Copenhagen, Denmark

    Shoaib Afzal

  2. Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

    Shoaib Afzal

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  1. Shoaib Afzal
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Correspondence to Shoaib Afzal .

Editor information

Editors and Affiliations

  1. School of Life Sciences, University of Westminster, London, UK

    Vinood B. Patel

  2. School of Life Course and Population Sciences, Faculty of Life Sciences and Medicine, King’s College London, London, UK

    Victor R. Preedy

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Afzal, S. (2022). Smoking and Genetics. In: Patel, V.B., Preedy, V.R. (eds) Handbook of Substance Misuse and Addictions. Springer, Cham. https://doi.org/10.1007/978-3-030-92392-1_34

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