Yonsei Med J.  2019 Jan;60(1):1-9. 10.3349/ymj.2019.60.1.1.

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

• Park JS
• Son JH
• Park CS
• Chang HS

• KMID: 2428272
• DOI: http://doi.org/10.3349/ymj.2019.60.1.1

Abstract

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.

Keyword

Asthma; aspirin; non-steroidal anti-inflammatory agents; biomarkers; single nucleotide polymorphism; genetic techniques

MeSH Terms

Anti-Inflammatory Agents, Non-Steroidal
Aspirin
Asthma*
Asthma, Occupational
Biomarkers
Diagnosis*
Genetic Association Studies
Genetic Markers
Genetic Techniques
Genome-Wide Association Study
Hope
Pathology
Phenotype
Polymorphism, Single Nucleotide*
Anti-Inflammatory Agents, Non-Steroidal
Aspirin
Biomarkers
Genetic Markers