DISC1 and SLC12A2 interaction affects human hippocampal function and connectivity

J Clin Invest. 2013 Jul;123(7):2961-4. doi: 10.1172/JCI67510.

Abstract

Hippocampal development is coordinated by both extracellular factors like GABA neurotransmission and intracellular components like DISC1. We previously reported that SLC12A2-dependent GABA depolarization and DISC1 coregulate hippocampal neuronal development, and 2 SNPs in these genes linked to mRNA expression interactively increase schizophrenia risk. Using functional MRI, we now confirm this biological interaction in vivo by showing in 2 independent samples of healthy individuals (total N = 349) that subjects homozygous for both risk alleles evince dramatically decreased hippocampal area activation (Cohen's d = 0.78)and connectivity (d = 0.57) during a recognition memory task. These data highlight the importance of epistatic models in understanding genetic association with complex brain phenotypes.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Adolescent
  • Adult
  • Connectome
  • Epistasis, Genetic
  • Genetic Predisposition to Disease
  • Heterozygote
  • Hippocampus / physiopathology*
  • Humans
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism
  • Parahippocampal Gyrus / physiopathology
  • Polymorphism, Single Nucleotide
  • Schizophrenia / genetics
  • Schizophrenia / physiopathology
  • Sodium-Potassium-Chloride Symporters / genetics*
  • Sodium-Potassium-Chloride Symporters / metabolism
  • Solute Carrier Family 12, Member 2
  • Young Adult

Substances

  • DISC1 protein, human
  • Nerve Tissue Proteins
  • SLC12A2 protein, human
  • Sodium-Potassium-Chloride Symporters
  • Solute Carrier Family 12, Member 2