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Updated: Nov 24, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Genetic Variants behind Cardiovascular Diseases and Dementia

Wei-Min Ho1,2, Yah-Yuan Wu1,2, Yi-Chun Chen1,2

  • 1Department of Neurology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan 33305, Taiwan.

Genes
|December 23, 2020
PubMed

Insights

Genetic links between cardiovascular diseases (CVDs) and dementia risk factors are revealed. Shared genes involve phospholipase C, vitamin metabolism, and inflammation pathways, offering insights into dementia treatments.

Area of Science:

  • Neuroscience
  • Genetics
  • Cardiology

Background:

  • Cardiovascular diseases (CVDs) and dementia are leading causes of disability and mortality.
  • Genetic links between cardiovascular risk factors and dementia remain largely unelucidated.
  • Understanding shared genetic underpinnings is crucial for developing effective treatments.

Purpose of the Study:

  • To conduct a scoping review and pathway analysis to identify shared genetic associations between CVDs and dementia.
  • To explore genetic connections underlying conditions like diabetes mellitus, hypertension, dyslipidemia, and specific cerebrovascular pathologies with dementia.

Main Methods:

  • Scoping review of PubMed literature using keywords for CVD risk factors and dementia.
  • Extraction of gene lists from relevant publications.
  • Pathway analysis to identify shared genes and single nucleotide polymorphisms (SNPs).

Main Results:

  • Shared risk SNPs for diabetes and dementia involve the phospholipase C enzyme system.
  • Genetic variants linked to white matter hyperintensities and microbleeds with dementia are associated with AP-2 transcription factors and vitamin metabolism.
  • Covert infarctions and dementia share variants related to VEGF signaling and anti-inflammatory pathways.

Conclusions:

  • This review illuminates shared genetic pathways between CVDs and dementia.
  • Findings provide a foundation for future research into causative relationships.
  • Identified genetic links may serve as a paradigm for developing novel dementia treatments.

Keywords:
Alzheimer’s diseasecardiovascular diseasecerebral microbleedingscovert infarctionsdementiasingle nucleotide polymorphismswhite matter hyperintensities

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