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Updated: Jul 11, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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Identification of novel variants for complicating cardiac disease in the scrub typhus infection using whole genome

Ki-Woon Kang1, Kyung-Won Hong2, Seong-Kyu Lee3,4

  • 1Division of Cardiology, Chung-Ang University Hospital, Chung-Ang University School of Medicine, Seoul, Korea.

The Korean Journal of Internal Medicine
|November 8, 2023
PubMed

Insights

Genetic variants in SLC24A2 and ADARB2 may predict cardiac complications in scrub typhus patients. Early detection of these single nucleotide polymorphisms (SNPs) could aid in identifying individuals at higher risk for cardiovascular disease.

Area of Science:

  • Genetics
  • Infectious Diseases
  • Cardiology

Background:

  • Scrub typhus infection is associated with high mortality due to cardiovascular complications.
  • Limited genetic susceptibility loci have been identified for cardiac diseases complicating scrub typhus.
  • Whole genome sequencing is crucial for identifying novel genetic variants.

Purpose of the Study:

  • To investigate novel genetic variants that predict cardiac complications in scrub typhus patients.
  • To identify specific genetic markers associated with increased risk of cardiovascular disease in scrub typhus survivors.
  • To explore the potential of genetic screening for early risk assessment.

Main Methods:

  • A prospective study of eight scrub typhus patients.
  • Whole genome sequencing of all participants.
  • Comparison of genetic variants between patients with and without cardiac complications.

Main Results:

  • Distinct genotype distributions were observed for two single nucleotide polymorphisms (SNPs).
  • GG genotype in SLC24A2 (rs4977397) and non-TT genotype in ADARB2 (rs2676750) were associated with cardiac complications.
  • These SNPs may serve as genetic markers for predicting cardiac disease.

Conclusions:

  • SNPs in SLC24A2 and ADARB2 may act as genetic surrogate markers for cardiac complications in scrub typhus.
  • Early detection of these variants could enable prediction of cardiac disease in scrub typhus patients.
  • Further research with larger cohorts is needed to confirm these findings.
Abstract

Keywords:
Adenosine deaminase RNA specific B2Cardiac diseasesScrub typhusSingle nucleotide polymorphismSolute carrier 24 family member 2

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