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

BACKGROUND/AIMS: Scrub typhus infection has been known to complicate cardiovascular diseases mainly attributing to high mortality. Genetic susceptibility loci for complicating cardiac diseases such as atrial fibrillation, heart failure, and ischemic heart disease identified by genomic study have bee...

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Autores principales: Kang, Ki-Woon, Hong, Kyung-Won, Lee, Seong-Kyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Association of Internal Medicine 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10636548/
https://www.ncbi.nlm.nih.gov/pubmed/37939667
http://dx.doi.org/10.3904/kjim.2023.221
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author Kang, Ki-Woon
Hong, Kyung-Won
Lee, Seong-Kyu
author_facet Kang, Ki-Woon
Hong, Kyung-Won
Lee, Seong-Kyu
author_sort Kang, Ki-Woon
collection PubMed
description BACKGROUND/AIMS: Scrub typhus infection has been known to complicate cardiovascular diseases mainly attributing to high mortality. Genetic susceptibility loci for complicating cardiac diseases such as atrial fibrillation, heart failure, and ischemic heart disease identified by genomic study have been limited in scrub typhus infection. Therefore, we investigated the genetic novel variants predicting complicating cardiac diseases in patients with confirmed scrub typhus infection using whole genome sequencing. METHODS: We performed a prospective study for eight consecutive patients with scrub typhus infection. During follow-up, six cases were clinically diagnosed with complicating cardiac diseases and two controls without complicating cardiac diseases. The whole genomes of the all patients were sequenced, and the individual sequence variants were compared between case and control patients. Variant genotypes were compared and identified as a single nucleotide polymorphism (SNP) of the different genotype distributions between six cases and two controls. RESULTS: The GG genotype in SNP (rs4977397) of solute carrier 24 family member 2 (SLC24A2) gene and non-TT genotype in SNP (rs2676750) of adenosine deaminase, RNA specific, B2 (ADARB2) gene were distinctively found in the case patients with complicated cardiac disease, compared with control patents in the scrub typhus infection. CONCLUSIONS: We suggest that the SNPs of SLC24A2 and ADARB2 might be genetic surrogate markers for complicating cardiac diseases in the scrub typhus infection. Our study show that early detection based on individual sequence variants might be feasible to predict complicating cardiac diseases in patients with scrub typhus infection, if further studies with more participants confirm these findings.
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spelling pubmed-106365482023-11-15 Identification of novel variants for complicating cardiac disease in the scrub typhus infection using whole genome sequencing Kang, Ki-Woon Hong, Kyung-Won Lee, Seong-Kyu Korean J Intern Med Original Article BACKGROUND/AIMS: Scrub typhus infection has been known to complicate cardiovascular diseases mainly attributing to high mortality. Genetic susceptibility loci for complicating cardiac diseases such as atrial fibrillation, heart failure, and ischemic heart disease identified by genomic study have been limited in scrub typhus infection. Therefore, we investigated the genetic novel variants predicting complicating cardiac diseases in patients with confirmed scrub typhus infection using whole genome sequencing. METHODS: We performed a prospective study for eight consecutive patients with scrub typhus infection. During follow-up, six cases were clinically diagnosed with complicating cardiac diseases and two controls without complicating cardiac diseases. The whole genomes of the all patients were sequenced, and the individual sequence variants were compared between case and control patients. Variant genotypes were compared and identified as a single nucleotide polymorphism (SNP) of the different genotype distributions between six cases and two controls. RESULTS: The GG genotype in SNP (rs4977397) of solute carrier 24 family member 2 (SLC24A2) gene and non-TT genotype in SNP (rs2676750) of adenosine deaminase, RNA specific, B2 (ADARB2) gene were distinctively found in the case patients with complicated cardiac disease, compared with control patents in the scrub typhus infection. CONCLUSIONS: We suggest that the SNPs of SLC24A2 and ADARB2 might be genetic surrogate markers for complicating cardiac diseases in the scrub typhus infection. Our study show that early detection based on individual sequence variants might be feasible to predict complicating cardiac diseases in patients with scrub typhus infection, if further studies with more participants confirm these findings. Korean Association of Internal Medicine 2023-11 2023-11-01 /pmc/articles/PMC10636548/ /pubmed/37939667 http://dx.doi.org/10.3904/kjim.2023.221 Text en Copyright © 2023 The Korean Association of Internal Medicine https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted noncommercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Kang, Ki-Woon
Hong, Kyung-Won
Lee, Seong-Kyu
Identification of novel variants for complicating cardiac disease in the scrub typhus infection using whole genome sequencing
title Identification of novel variants for complicating cardiac disease in the scrub typhus infection using whole genome sequencing
title_full Identification of novel variants for complicating cardiac disease in the scrub typhus infection using whole genome sequencing
title_fullStr Identification of novel variants for complicating cardiac disease in the scrub typhus infection using whole genome sequencing
title_full_unstemmed Identification of novel variants for complicating cardiac disease in the scrub typhus infection using whole genome sequencing
title_short Identification of novel variants for complicating cardiac disease in the scrub typhus infection using whole genome sequencing
title_sort identification of novel variants for complicating cardiac disease in the scrub typhus infection using whole genome sequencing
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10636548/
https://www.ncbi.nlm.nih.gov/pubmed/37939667
http://dx.doi.org/10.3904/kjim.2023.221
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