Beyond the DSM: defining endophenotypes for genetic studies of substance abuse

Although substance-related disorders are heritable, the genetic factors contributing to vulnerability to these disorders are expected to be complex. Nonetheless, identifying genes underlying this vulnerability and understanding their relationship with environmental factors and behavior holds the pro...

Full description

Saved in:
Bibliographic Details
Published inCurrent psychiatry reports Vol. 8; no. 2; pp. 144 - 150
Main Authors Frederick, Jon A, Iacono, William G
Format Journal Article
LanguageEnglish
Published United States Springer Nature B.V 01.04.2006
Subjects
Behavior
Brain - physiopathology
Diagnostic and Statistical Manual of Mental Disorders
Electroencephalography
Evoked Potentials, Visual - physiology
Humans
Phenotype
Psychiatry
Substance-Related Disorders - diagnosis
Substance-Related Disorders - genetics
Substance-Related Disorders - physiopathology
Twin Studies as Topic
Online AccessGet full text

Cover

More Information
Summary:Although substance-related disorders are heritable, the genetic factors contributing to vulnerability to these disorders are expected to be complex. Nonetheless, identifying genes underlying this vulnerability and understanding their relationship with environmental factors and behavior holds the promise of dramatic advances in diagnosis, prevention, and treatment. The search is complicated by a number of factors, however, including the weak validity of psychiatric diagnosis for identifying gene carriers, the complexity of the brain and behavior, and the numerous intervening variables between genetic transcription and its behavioral consequences. One strategy for bridging this theoretical gap is to study endophenotypes--biologic correlates of disorders that precede their overt development, may have higher reliability than behavioral measures, and present simpler relationships with a smaller number of genes. This article reviews research suggesting the usefulness of several putative endophenotypes for substance-related disorders, including 1) reduced P3 amplitude of the visual event-related potential, 2) increased EEG beta power, 3) a lowered level of response to an alcohol challenge, and 4) the inability to modulate autonomic nervous system reactivity under the stress of anticipating a predictable aversive stimulus.
ISSN:1523-3812
1535-1645
DOI:10.1007/s11920-006-0014-2