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Genetic and Metabolic Determinants of Atrial Fibrillation in a General Population Sample: The CHRIS Study

David B Emmert1, Vladimir Vukovic1,2, Nikola Dordevic1

  • 1Eurac Research, Institute for Biomedicine (Affiliated to the University of Lübeck), 39100 Bolzano, Italy.

Biomolecules
|November 27, 2021
PubMed

Insights

This study identified two novel genetic loci and a specific metabolite linked to atrial fibrillation (AF), a common heart rhythm disorder. These findings advance understanding of AF

Area of Science:

  • Genetics and Genomics
  • Metabolomics
  • Cardiovascular Research

Background:

  • Atrial fibrillation (AF) is a prevalent arrhythmia associated with significant health risks.
  • Limited understanding of AF's underlying genetic and metabolic mechanisms hinders effective treatment.
  • Population-based studies are crucial for uncovering complex disease determinants.

Purpose of the Study:

  • To investigate the genetic and metabolic factors contributing to atrial fibrillation.
  • To identify novel genetic loci and metabolic signatures associated with AF in a general population.
  • To explore the combined utility of genomic and metabolomic approaches in AF research.

Main Methods:

  • Conducted a genome-wide association scan (GWAS) in 10,509 individuals from the Cooperative Health Research in South Tyrol study.
  • Performed targeted metabolic screening of 175 metabolites in a subset of participants.
  • Utilized familial aggregation analysis and Sanger sequencing for genetic validation.

Main Results:

  • Identified two novel genetic loci near SNPs rs745582874 (gene PBX1) and rs768476991 (gene PCCA) associated with AF.
  • Observed significantly lower concentrations of lysophosphatidylcholine lysoPC a C20:3 in AF cases compared to controls (p-adj = 0.005).
  • Found enrichment of risk alleles in familial AF cases, supporting the identified genetic associations.

Conclusions:

  • The identified GWAS loci represent potential novel rare genetic determinants for atrial fibrillation.
  • The reduced level of lysoPC a C20:3 suggests a metabolic link to AF pathophysiology.
  • Combined genomic and metabolomic analyses provide valuable insights into AF in large-scale population studies.

Keywords:
Cooperative Health Research in South TyrolGWASatrial fibrillationfamilial aggregationmetabolomicsrare alleles

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