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Genetic insight into sick sinus syndrome.

Rosa B Thorolfsdottir1, Gardar Sveinbjornsson1, Hildur M Aegisdottir1

  • 1deCODE genetics/Amgen, Inc., Sturlugata 8, Reykjavik 101, Iceland.

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|February 13, 2021
PubMed
Summary

Genetic analysis identified new risk factors for sick sinus syndrome (SSS), including a KRT8 gene variant. Atrial fibrillation (AF) and lower heart rate causally influence SSS development.

Keywords:
KRT8Atrial fibrillationGWASMendelian randomizationSick sinus syndrome

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Area of Science:

  • Human genetics
  • Cardiovascular disease pathogenesis
  • Molecular biology

Background:

  • Sick sinus syndrome (SSS) is a complex cardiac arrhythmia.
  • Understanding the genetic underpinnings and risk factors for SSS is crucial for developing effective treatments.

Purpose of the Study:

  • To investigate the genetic basis of sick sinus syndrome (SSS) using human genetics.
  • To identify genetic variants and risk factors contributing to SSS pathogenesis.

Main Methods:

  • Genome-wide association study (GWAS) of 6,469 SSS cases and 10,0187 controls.
  • Analysis of genetic variants at six loci, including a KRT8 missense variant (p.Gly62Cys).
  • Polygenic score (PGS) and Mendelian randomization (MR) analyses to assess causality of risk factors.

Main Results:

  • Identified six genetic loci associated with SSS, including a high-risk KRT8 variant (p.Gly62Cys).
  • Homozygotes for KRT8 p.Gly62Cys showed a significantly increased odds ratio (13.99) for SSS.
  • Mendelian randomization suggested atrial fibrillation (AF) and lower heart rate are causal factors in SSS development.
  • All identified SSS variants increased the risk of pacemaker implantation.

Conclusions:

  • A KRT8 missense variant confers a high risk for SSS, particularly in homozygotes, suggesting a specific pathogenic mechanism.
  • Mendelian randomization provides evidence for a causal relationship between AF and SSS development.
  • Genetic findings highlight novel pathways involved in SSS pathogenesis.