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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.

European Heart Journal
|October 25, 2022
PubMed
Summary
This summary is machine-generated.

Human genetics reveals new insights into sick sinus syndrome (SSS) pathogenesis. A KRT8 gene variant significantly increases SSS risk, particularly in homozygotes, and atrial fibrillation is causally linked to SSS development.

Keywords:
KRT8Atrial fibrillationGWASMendelian randomizationSick sinus syndrome

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Area of Science:

  • Human Genetics
  • Cardiovascular Disease Pathogenesis
  • Molecular Cardiology

Background:

  • Sick sinus syndrome (SSS) is a complex cardiac arrhythmia affecting heart rate regulation.
  • Understanding the genetic underpinnings and risk factors for SSS is crucial for developing targeted therapies.
  • Previous research has identified several genetic loci associated with SSS, but a comprehensive genetic investigation is needed.

Purpose of the Study:

  • To investigate the genetic basis of sick sinus syndrome (SSS) using a large-scale genome-wide association study.
  • To identify novel genetic variants and evaluate the role of known risk factors in SSS pathogenesis.
  • To explore the causal relationship between SSS and other cardiovascular conditions, such as atrial fibrillation.

Main Methods:

  • Conducted a genome-wide association study (GWAS) involving 6,469 SSS cases and 10,0187 controls from multiple biobanks.
  • Analyzed genetic variants at six loci, including a novel missense variant in KRT8 (p.Gly62Cys).
  • Utilized polygenic score (PGS) and Mendelian randomization (MR) analyses to assess causality for various exposure phenotypes.

Main Results:

  • Identified significant associations of variants at six loci with SSS, including a low-frequency KRT8 missense variant conferring a high risk in homozygotes (OR=13.99).
  • All identified SSS variants were associated with an increased risk of pacemaker implantation.
  • Mendelian randomization analyses supported a causal role for atrial fibrillation (AF) and lower heart rate in SSS development, while refuting causal links for BMI, cholesterol, and type 2 diabetes.

Conclusions:

  • Reported novel genetic associations for SSS, highlighting a KRT8 variant as a specific mechanism contributing to disease development.
  • Provided genetic evidence supporting a causal role of atrial fibrillation in the pathogenesis of sick sinus syndrome.
  • The findings contribute to a deeper understanding of SSS etiology and may inform future diagnostic and therapeutic strategies.