Bridging Integrator 1 (BIN1) Genotype Effects on Working Memory, Hippocampal Volume, and Functional Connectivity in Young Healthy Individuals

Neuropsychopharmacology. 2015 Jun;40(7):1794-803. doi: 10.1038/npp.2015.30. Epub 2015 Jan 29.

Abstract

Alzheimer's disease (AD) is the most common form of dementia and exhibits a considerable level of heritability. The bridging integrator 1 (BIN1) gene has recently been identified in several large genome-wide association studies (GWAS) as the second most important risk locus for AD following apolipoprotein E (APOE). However, how and when the established genetic risk locus BIN1 rs744373 confers risk to late-onset AD has yet to be determined. Here using an imaging genetic strategy in large-sample Chinese subjects, we show that healthy homozygous carriers of the rs744373 risk allele exhibit worse high-load working memory (WM) performance, larger hippocampal volume and lower functional connectivity between the bilateral hippocampus and the right dorsolateral prefrontal cortex (DLPFC), mirroring clinical evidence of disturbed memory and connectivity in patients. Our findings demonstrate that rs744373 itself or a variation in linkage disequilibrium may provide a neurogenetic mechanism for BIN1 while further validating the possibility of combining genetic and neuroimaging strategies to monitor individuals at risk for AD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Analysis of Variance
  • Brain Mapping
  • Chi-Square Distribution
  • Female
  • Genotype
  • Healthy Volunteers
  • Hippocampus / anatomy & histology*
  • Hippocampus / blood supply
  • Humans
  • Image Processing, Computer-Assisted
  • Magnetic Resonance Imaging
  • Male
  • Memory, Short-Term / physiology*
  • Neuropsychological Tests
  • Nuclear Proteins / genetics*
  • Oxygen / blood
  • Polymorphism, Single Nucleotide / genetics*
  • Rest
  • Tumor Suppressor Proteins / genetics*
  • Young Adult

Substances

  • Adaptor Proteins, Signal Transducing
  • BIN1 protein, human
  • Nuclear Proteins
  • Tumor Suppressor Proteins
  • Oxygen