Genetic Epidemiology of Smoking Behaviour and Nicotine Dependence


The public health significance of sustained smoking is overwhelming. The genetic epidemiology and architecture of smoking behaviour and nicotine dependence have been studied for several decades. Twin, family and adoption studies show consistent evidence for genetic effects on many aspects of smoking behaviour and nicotine dependence. Gene–environment interactions have been detected, such as parental monitoring moderating genetic vulnerability for smoking initiation. Molecular genetic analyses have only recently identified few genes consistently associated with amount smoked and nicotine dependence, whereas large genome‐wide association studies have identified only a handful of genes associated with nicotine dependence. The nicotinic receptor alpha 5 gene (CHRNA5) variant associated with nicotine dependence in genetic association studies is functional. Further studies with more sophisticated phenotypes, larger sample sizes and better measures of the environment are needed.

Key Concepts:

  • Smoking behaviour and nicotine dependence aggregate in families.

  • Genetic liability underlies this familial aggregation.

  • The heritability of smoking behaviour is moderate, but varies between populations.

  • The genetic architecture of nicotine dependence is poorly known.

  • Large genome‐wide association studies have identified only a handful of genes associated with nicotine dependence.

  • The nicotinic receptor alpha 5 gene variant associated with nicotine dependence in genetic association studies is functional.

  • This functional variant affects nicotine intake in animal models.

  • Gene–environment interactions have been detected for smoking behaviours, such as parental monitoring moderating genetic vulnerability in youth.

Keywords: smoking; nicotine dependence; family studies; twin studies; molecular genetics; gene–environment interactions


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Korhonen, Tellervo, and Kaprio, Jaakko(Sep 2011) Genetic Epidemiology of Smoking Behaviour and Nicotine Dependence. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0023476]