Related Experiment Video

Updated: Jan 30, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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Genetic associations of circulating plasma proteins with cardiometabolic diseases

Ruixin Zhou1, Jun Qiao1, Xiuzhen Zhang2

  • 1Department of Pharmacology, SUSTech Homeostatic Medicine Institute, School of Medicine, Southern University of Science and Technology; Department of Geriatrics, Shenzhen People's Hospital (the First Affiliated Hospital of Southern University of Science and Technology), Shenzhen, 518055, Guangdong, China.

Genome Biology
|January 29, 2026
PubMed

Insights

This study identified causal plasma proteins linked to cardiovascular diseases and metabolic issues. Six proteins show therapeutic potential, advancing drug discovery for these common conditions.

Area of Science:

  • Genetics
  • Proteomics
  • Cardiovascular Medicine
  • Metabolic Disorders

Background:

  • Cardiovascular disease (CVD) is a leading global cause of mortality, with metabolic abnormalities as a key risk factor.
  • Understanding the interplay between plasma proteins, CVD, and metabolic traits is crucial for developing effective interventions.

Purpose of the Study:

  • To investigate the causal relationships between plasma proteins and six major cardiovascular diseases.
  • To explore the links between plasma proteins and 19 different metabolic traits.
  • To identify potential therapeutic targets for cardiovascular diseases with metabolic components.

Main Methods:

  • Utilized summary-data-based Mendelian randomization (MR) and colocalization analysis.
  • Cross-validated findings across two proteomic platforms.
  • Conducted phenome-wide MR analysis to assess therapeutic potential.

Main Results:

  • Identified 49 proteins genetically associated with cardiovascular diseases, with 35 also linked to metabolic phenotypes.
  • Six proteins demonstrated evidence of colocalization, indicating shared causal pathways.
  • PCSK9 is an established therapy; DUSP13B, LRIG1, APOH, INHBC, and GUSB show significant therapeutic promise.

Conclusions:

  • This research elucidates causal plasma proteins contributing to cardiovascular diseases and metabolic abnormalities.
  • The findings enhance the understanding of disease mechanisms.
  • Identified novel protein targets that can facilitate future drug discovery and development for CVD.
Abstract

Keywords:
Cardiovascular diseasesDrug targetMendelian randomizationMetabolic phenotypesProteome

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