Clinical Implications of Single Nucleotide Polymorphisms in Diagnosis of Asthma and its Subtypes
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초록
For the past three decades, a large number of genetic studies have been performed to examine genetic variants associated withasthma and its subtypes in hopes of gaining better understanding of the mechanisms underlying disease pathology and to identifygenetic biomarkers predictive of disease outcomes. Various methods have been used to achieve these objectives, includinglinkage analysis, candidate gene polymorphism analysis, and genome-wide association studies (GWAS); however, the degree towhich genetic variants contribute to asthma pathogenesis has proven to be much less significant than originally expected. Subsequentapplication of GWAS to well-defined phenotypes, such as occupational asthma and non-steroidal anti-inflammatory drugexacerbatedrespiratory diseases, has overcome some of these limitations, although with only partial success. Recently, a combinatorialanalysis of single nucleotide polymorphisms (SNPs) identified by GWAS has been used to develop sets of genetic markersable to more accurately stratify asthma subtypes. In this review, we discuss the implications of the identified SNPs in diagnosis ofasthma and its subtypes and the progress being made in combinatorial analysis of genetic variants.
Abstract
For the past three decades, a large number of genetic studies have been performed to examine genetic variants associated withasthma and its subtypes in hopes of gaining better understanding of the mechanisms underlying disease pathology and to identifygenetic biomarkers predictive of disease outcomes. Various methods have been used to achieve these objectives, includinglinkage analysis, candidate gene polymorphism analysis, and genome-wide association studies (GWAS); however, the degree towhich genetic variants contribute to asthma pathogenesis has proven to be much less significant than originally expected. Subsequentapplication of GWAS to well-defined phenotypes, such as occupational asthma and non-steroidal anti-inflammatory drugexacerbatedrespiratory diseases, has overcome some of these limitations, although with only partial success. Recently, a combinatorialanalysis of single nucleotide polymorphisms (SNPs) identified by GWAS has been used to develop sets of genetic markersable to more accurately stratify asthma subtypes. In this review, we discuss the implications of the identified SNPs in diagnosis ofasthma and its subtypes and the progress being made in combinatorial analysis of genetic variants.
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