regional imaging genetic associations

regional imaging genetic associations performs voxelwise enrichment analysis to detect collective genetic effects on brain imaging phenotypes by aggregating weak voxel-level signals and leveraging anatomical annotations.


Key Features:

  • Voxelwise Enrichment Analysis: Performs enrichment analysis at the individual voxel level within ROIs to aggregate weak signals instead of relying on ROI summary statistics.
  • Integration with Brain Anatomical Annotation: Incorporates brain anatomical annotation information to enable biologically meaningful interpretation of regional genetic effects.
  • Statistical Power Enhancement: Reduces the multiple-comparison burden to increase statistical power relative to traditional ROI-wise and voxelwise approaches.

Scientific Applications:

  • ADNI FDG-positron emission tomography regional genetic analysis: Applied to Alzheimer's Disease Neuroimaging Initiative (ADNI) FDG-positron emission tomography data across 116 ROIs and 565,373 SNPs, identifying 2,946 novel imaging genetic associations, confirming 33 overlapping associations, and obtaining transcriptome support for two variants.

Methodology:

Uses voxelwise enrichment analysis that embraces weak voxel-level signals, integrates brain anatomical annotation information, and reduces the need for extensive multiple-comparison corrections.

Topics

Details

License:
GPL-3.0
Programming Languages:
R
Added:
1/14/2020
Last Updated:
11/24/2024

Operations

Publications

Yao X, Cong S, Yan J, Risacher SL, Saykin AJ, Moore JH, Shen L. Regional imaging genetic enrichment analysis. Bioinformatics. 2019;36(8):2554-2560. doi:10.1093/bioinformatics/btz948. PMID:31860065. PMCID:PMC7178438.

PMID: 31860065
PMCID: PMC7178438
Funding: - National Institutes of Health: P30 AG010133, R01 AG019771, R01 EB022574, R01 LM011360, RF1 AG063481, U19 AG024904 - National Science Foundation: IIS 1837964