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Clinical Implications of Single Nucleotide Polymorphisms in Diagnosis of Asthma and its Subtypes

For the past three decades, a large number of genetic studies have been performed to examine genetic variants associated with asthma and its subtypes in hopes of gaining better understanding of the mechanisms underlying disease pathology and to identify genetic biomarkers predictive of disease outco...

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Autores principales: Park, Jong-Sook, Son, Ji-Hye, Park, Choon-Sik, Chang, Hun Soo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298887/
https://www.ncbi.nlm.nih.gov/pubmed/30554485
http://dx.doi.org/10.3349/ymj.2019.60.1.1
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author Park, Jong-Sook
Son, Ji-Hye
Park, Choon-Sik
Chang, Hun Soo
author_facet Park, Jong-Sook
Son, Ji-Hye
Park, Choon-Sik
Chang, Hun Soo
author_sort Park, Jong-Sook
collection PubMed
description For the past three decades, a large number of genetic studies have been performed to examine genetic variants associated with asthma and its subtypes in hopes of gaining better understanding of the mechanisms underlying disease pathology and to identify genetic biomarkers predictive of disease outcomes. Various methods have been used to achieve these objectives, including linkage analysis, candidate gene polymorphism analysis, and genome-wide association studies (GWAS); however, the degree to which genetic variants contribute to asthma pathogenesis has proven to be much less significant than originally expected. Subsequent application of GWAS to well-defined phenotypes, such as occupational asthma and non-steroidal anti-inflammatory drugexacerbated respiratory diseases, has overcome some of these limitations, although with only partial success. Recently, a combinatorial analysis of single nucleotide polymorphisms (SNPs) identified by GWAS has been used to develop sets of genetic markers able to more accurately stratify asthma subtypes. In this review, we discuss the implications of the identified SNPs in diagnosis of asthma and its subtypes and the progress being made in combinatorial analysis of genetic variants.
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spelling pubmed-62988872019-01-01 Clinical Implications of Single Nucleotide Polymorphisms in Diagnosis of Asthma and its Subtypes Park, Jong-Sook Son, Ji-Hye Park, Choon-Sik Chang, Hun Soo Yonsei Med J Review Article For the past three decades, a large number of genetic studies have been performed to examine genetic variants associated with asthma and its subtypes in hopes of gaining better understanding of the mechanisms underlying disease pathology and to identify genetic biomarkers predictive of disease outcomes. Various methods have been used to achieve these objectives, including linkage analysis, candidate gene polymorphism analysis, and genome-wide association studies (GWAS); however, the degree to which genetic variants contribute to asthma pathogenesis has proven to be much less significant than originally expected. Subsequent application of GWAS to well-defined phenotypes, such as occupational asthma and non-steroidal anti-inflammatory drugexacerbated respiratory diseases, has overcome some of these limitations, although with only partial success. Recently, a combinatorial analysis of single nucleotide polymorphisms (SNPs) identified by GWAS has been used to develop sets of genetic markers able to more accurately stratify asthma subtypes. In this review, we discuss the implications of the identified SNPs in diagnosis of asthma and its subtypes and the progress being made in combinatorial analysis of genetic variants. Yonsei University College of Medicine 2019-01-01 2018-12-13 /pmc/articles/PMC6298887/ /pubmed/30554485 http://dx.doi.org/10.3349/ymj.2019.60.1.1 Text en © Copyright: Yonsei University College of Medicine 2019 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 (https://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review Article
Park, Jong-Sook
Son, Ji-Hye
Park, Choon-Sik
Chang, Hun Soo
Clinical Implications of Single Nucleotide Polymorphisms in Diagnosis of Asthma and its Subtypes
title Clinical Implications of Single Nucleotide Polymorphisms in Diagnosis of Asthma and its Subtypes
title_full Clinical Implications of Single Nucleotide Polymorphisms in Diagnosis of Asthma and its Subtypes
title_fullStr Clinical Implications of Single Nucleotide Polymorphisms in Diagnosis of Asthma and its Subtypes
title_full_unstemmed Clinical Implications of Single Nucleotide Polymorphisms in Diagnosis of Asthma and its Subtypes
title_short Clinical Implications of Single Nucleotide Polymorphisms in Diagnosis of Asthma and its Subtypes
title_sort clinical implications of single nucleotide polymorphisms in diagnosis of asthma and its subtypes
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298887/
https://www.ncbi.nlm.nih.gov/pubmed/30554485
http://dx.doi.org/10.3349/ymj.2019.60.1.1
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