Swan, G. E., Lessov-Schlaggar, C. N., Bierut, L. J., Shields, A. E., Bergen, A. W., & Vanyukov, M. (2009). Status of genetic studies of nicotine dependence. National Cancer Institute. Phenotypes and endophenotypes: Foundations for genetic studies of nicotine use and dependence. Tobacco Control Monograph, (20).
This chapter frames important issues in identifying potential phenotypes of nicotine dependence and sets the stage for examining the role of genetics in nicotine-dependence research. Key areas discussed include
■ Issues in the defi nition and measurement of nicotine dependence
■ A framework for phenotypes for nicotine dependence that potentially links genetics and behavioral traits while showing measurable validity, reliability, and heritability
■ The implications of epidemiological concepts in identifying potentially complex genetic risk factors for nicotine dependence
■ Measuring environmental infl uences and including them in models of estimates of genetic risk and the role epigenetic investigations will play in future investigations
■ A review of selected biometric and genetic studies of nicotine dependence
■ The communication and interpretation of fi ndings from genetic studies of nicotine dependence, including the need for replication, the potential for stigmatization, and value of direct-to-consumer marketing of genetic tests based on these findings.
This volume examines conceptual, theoretical, and methodological considerations in the development of nicotine-dependence phenotypes and endophenotypes. Each of these areas shows the potential for future study to help better understand factors in global tobacco use.