Mining regional imaging genetic associations via voxel-wise enrichment analysis

Xiaohui Yao, Shan Cong, Jingwen Yan, Shannon L. Risacher, Andrew J. Saykin, Jason H. Moore, Li Shen

Research output: Chapter in Book/Report/Conference proceedingConference contribution

1 Scopus citations

Abstract

Brain imaging genetics aims to reveal genetic effects on brain phenotypes, where most studies examine phenotypes defined on anatomical or functional regions of interest (ROIs) given their biologically meaningful annotation and modest dimensionality compared with voxel-wise approaches. Typical ROI-level measures used in these studies are summary statistics from voxel-wise measures in the region, without making full use of individual voxel signals. In this paper, we propose a flexible and powerful framework for mining regional imaging genetic associations via voxel-wise enrichment analysis, which embraces the collective effect of weak voxel-level signals within an ROI. We demonstrate our method on an imaging genetic analysis using data from the Alzheimers Disease Neuroimaging Initiative, where we assess the collective regional genetic effects of voxel-wise FDG-PET measures between 116 ROIs and 19 AD candidate SNPs. Compared with traditional ROI-wise and voxel-wise approaches, our method identified 102 additional significant associations, some of which were further supported by evidences in brain tissue-specific expression analysis. This demonstrates the promise of the proposed method as a flexible and powerful framework for exploring imaging genetic effects on the brain.

Original languageEnglish (US)
Title of host publication2019 IEEE EMBS International Conference on Biomedical and Health Informatics, BHI 2019 - Proceedings
PublisherInstitute of Electrical and Electronics Engineers Inc.
ISBN (Electronic)9781728108483
DOIs
StatePublished - May 2019
Event2019 IEEE EMBS International Conference on Biomedical and Health Informatics, BHI 2019 - Chicago, United States
Duration: May 19 2019May 22 2019

Publication series

Name2019 IEEE EMBS International Conference on Biomedical and Health Informatics, BHI 2019 - Proceedings

Conference

Conference2019 IEEE EMBS International Conference on Biomedical and Health Informatics, BHI 2019
CountryUnited States
CityChicago
Period5/19/195/22/19

Keywords

  • Enrichment analysis
  • Genetic association analysis
  • Imaging genetics
  • Voxel-wise analysis

ASJC Scopus subject areas

  • Artificial Intelligence
  • Signal Processing
  • Information Systems and Management
  • Biomedical Engineering
  • Health Informatics
  • Radiology Nuclear Medicine and imaging

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  • Cite this

    Yao, X., Cong, S., Yan, J., Risacher, S. L., Saykin, A. J., Moore, J. H., & Shen, L. (2019). Mining regional imaging genetic associations via voxel-wise enrichment analysis. In 2019 IEEE EMBS International Conference on Biomedical and Health Informatics, BHI 2019 - Proceedings [8834450] (2019 IEEE EMBS International Conference on Biomedical and Health Informatics, BHI 2019 - Proceedings). Institute of Electrical and Electronics Engineers Inc.. https://doi.org/10.1109/BHI.2019.8834450