Whole blood gene expression and white matter Hyperintensities

Honghuang Lin, Claudia Satizabal, Zhijun Xie, Qiong Yang, Tianxiao Huan, Roby Joehanes, Chengping Wen, Peter J. Munson, Alexa Beiser, Daniel Levy, Sudha Seshadri

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Background: White matter hyperintensities (WMH) are an important biomarker of cumulative vascular brain injury and have been associated with cognitive decline and an increased risk of dementia, stroke, depression, and gait impairments. The pathogenesis of white matter lesions however, remains uncertain. The characterization of gene expression profiles associated with WMH might help uncover molecular mechanisms underlying WMH. Methods: We performed a transcriptome-wide association study of gene expression profiles with WMH in 3248 participants from the Framingham Heart Study using the Affymetrix Human Exon 1.0 ST Array. Results: We identified 13 genes that were significantly associated with WMH (FDR < 0.05) after adjusting for age, sex and blood cell components. Many of these genes are involved in inflammation-related pathways. Conclusion: Thirteen genes were significantly associated with WMH. Our study confirms the hypothesis that inflammation might be an important factor contributing to white matter lesions. Future work is needed to explore if these gene products might serve as potential therapeutic targets.

Original languageEnglish (US)
Article number67
JournalMolecular Neurodegeneration
Issue number1
StatePublished - Sep 18 2017
Externally publishedYes


  • Epidemiology
  • Gene expression
  • White matter hyperintensities

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Molecular Biology


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