The genetic blueprint of major depressive disorder: Contributions of imaging genetics studies

Abstract

Objectives. To review neuroimaging intermediate phenotypes of MDD and their relation to genetic risk variants. Methods. A systematic literature search of peer-reviewed English language articels using PubMed (www.pubmed.org) was performed. Results. Comprehensive evidence on the influence of serotonergic genes (SLC6A4, HTR1A, MAOA, TPH2) and BDNF on the following neural intermediate phenotypes is displayed: amygdala reactivity, coupling of amygdala-anterior cingulate cortex (ACC) activity, ACC volume, hippocampal volume and serotonin receptor 1A (5-HT1A) binding potential (BP). Conclusions. Intermediate phenotypes may bridge the gap between genotype and phenotype by reducing the impreciseness of psychiatric phenotypes and yield more insights into the underlying biology.

Key words::

• Major depressive disorder
• genetics
• pharmacogenetics
• amygdala
• cingulate gyrus
• hippocampus
• 5-HT1A receptor

Acknowledgements

None.

Statement of Interest

This article is part of the educational efforts of the Special Research Project SFB-35 (Project No. F3514-B11 and F3506-B11), funded by the Austrian Science Fund (FWF).

C. Scharinger, U. Rabl and L. Pezawas have no relevant affiliations or financial involvement with any organization with a financial interest in or financial conflict with the subject matter discussed in the submitted manuscript.

S. Kasper has received grant/research support from Bristol Myers-Squibb, Eli Lilly, GlaxoSmithKline, Lundbeck, Organon, Sepracor and Servier; has served as a consultant or on advisory boards for AstraZeneca, Bristol-Myers Squibb, Eli Lilly, GlaxoSmithKline, Janssen, Lundbeck, Merck Sharp and Dome (MSD), Novartis, Organon, Pfizer, Schwabe, Sepracor, and Servier; and has served on speakers’ bureaus for Angelini, AstraZeneca, Bristol Myers-Squibb, Eli Lilly, Janssen, Lundbeck, Pfizer, Pierre Fabre, Schwabe, Sepracor, and Servier.