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

World J Biol Psychiatry. 2011 Oct;12(7):474-88. doi: 10.3109/15622975.2011.596220. Epub 2011 Aug 11.


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 ( ) 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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Depressive Disorder, Major / genetics*
  • Depressive Disorder, Major / pathology
  • Depressive Disorder, Major / physiopathology
  • Humans
  • Neuroimaging / statistics & numerical data*