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Updated: Apr 1, 2026

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Structural Neuroimaging Genetics Interactions in Alzheimer's Disease.

Seok Woo Moon1, Ivo D Dinov2,3, Jaebum Kim4

  • 1Department of Psychiatry, Konkuk University School of Medicine, Seoul, Republic of Korea.

Journal of Alzheimer'S Disease : JAD
|October 8, 2015
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Summary
This summary is machine-generated.

This study links specific genetic markers (SNPs) with brain structure changes in Alzheimer's disease (AD), mild cognitive impairment (MCI), and normal controls (NC) using neuroimaging. These findings highlight the potential of combined genetic and imaging data for understanding cognitive decline.

Keywords:
ADNIAlzheimer’s diseaseGWASlate-onsetmild cognitive impairmentneuroimaging

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Area of Science:

  • Neuroscience
  • Genetics
  • Medical Imaging

Background:

  • Late-onset cognitive impairment, including Alzheimer's disease (AD) and mild cognitive impairment (MCI), poses a significant public health challenge.
  • Understanding the interplay between genetic factors and neuroimaging biomarkers is crucial for early detection and intervention.

Purpose of the Study:

  • To investigate the association between specific genetic variations (SNPs) and neuroimaging biomarkers in individuals with AD, MCI, and normal controls (NC).
  • To explore the utility of integrated genetic and neuroimaging data analysis for differentiating cognitive impairment stages.

Main Methods:

  • Utilized structural magnetic resonance imaging (MRI) data from 808 participants in the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort.
  • Extracted 80 neuroimaging biomarkers using BrainParser and global shape analysis.
  • Identified 80 single nucleotide polymorphisms (SNPs) highly associated with imaging biomarkers using Plink.

Main Results:

  • Identified significant associations between specific SNPs and regional brain structures (e.g., hippocampi, parahippocampal gyri, caudate, fusiform gyrus, inferior temporal gyrus) in AD, MCI, and NC groups.
  • Observed significant correlations between genetic and neuroimaging phenotypes across the entire ADNI cohort.
  • rs2137962 was linked to bilateral hippocampal and parahippocampal changes in AD patients.

Conclusions:

  • Genetic variations show significant correlations with specific neuroimaging phenotypes across different cognitive statuses.
  • Joint analysis of morphometric, imaging, and genotypic data offers a powerful approach to examine differences between AD, MCI, and NC cohorts.
  • These findings contribute to a deeper understanding of the genetic underpinnings of cognitive impairment.