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Substance Use: Disorders and Continuous Traits

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Genetics of Substance Use

Abstract

Defining the traits and phenotypes as well as their adequate measurement is critically important for genetic research. This chapter reviews the nature of the traits pertaining to substance use, the variety of related phenotypic definitions, and their influence on research and practice. The binary view on the extreme forms of substance use, commonly conceived of as a psychiatric disorder, addiction (substance use disorder), is juxtaposed with the alternative perspective of liability to disorder. This complex behavioral trait, with its numerous phenotypic manifestations related to the variety of psychoactive substances, is also shown to have a substantial non-substance-specific, common (general) liability component, underlying co-occurrence and changes in the use of different substances. The liability perspective allows reversal of the traditional focus of biomedical research on risk/disease to the resistance/health aspect of liability. The measurement of this trait is discussed, along with the analysis of disorder symptoms as its indicators. The role of genetic studies in understanding substance use, with their prospects and limitations, is reviewed.

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Notes

  1. 1.

    Without delving into the differences between distributions of continua (of liability—see below) for mental disorder and, e.g., infectious diseases, the former would likely be unimodal and assumed normal (Gaussian) while the latter bimodal (the uninfected, with no disease, and the infected, with some distribution of severity around the mean, from no disorder to its severest form).

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Kirisci, L., Vanyukov, M.M. (2022). Substance Use: Disorders and Continuous Traits. In: Vanyukov, M.M. (eds) Genetics of Substance Use. Springer, Cham. https://doi.org/10.1007/978-3-030-95350-8_1

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