Genetic polymorphisms and associated susceptibility to asthma
Michael E March,1 Patrick MA Sleiman,1 Hakon Hakonarson1,2
1Center for Applied Genomics, Abramson Research Center of the Joseph Stokes Jr Research Institute, The Children's Hospital of Philadelphia, 2Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, USA
Abstract: As complex common diseases, asthma and allergic diseases are caused by the interaction of multiple genetic variants with a variety of environmental factors. Candidate-gene studies have examined the involvement of a very large list of genes in asthma and allergy, demonstrating a role for more than 100 loci. These studies have elucidated several themes in the biology and pathogenesis of these diseases. A small number of genes have been associated with asthma or allergy through traditional linkage analyses. The publication of the first asthma-focused genome-wide association (GWA) study in 2007 has been followed by nearly 30 reports of GWA studies targeting asthma, allergy, or associated phenotypes and quantitative traits. GWA studies have confirmed several candidate genes and have identified new, unsuspected, and occasionally uncharacterized genes as asthma susceptibility loci. Issues of results replication persist, complicating interpretation and making conclusions difficult to draw, and much of the heritability of these diseases remains undiscovered. In the coming years studies of complex diseases like asthma and allergy will probably involve the use of high-throughput next-generation sequencing, which will bring a tremendous influx of new information as well as new problems in dealing with vast datasets.
Keywords: genome-wide association study, high-throughput next-generation sequencing, allergy, environmental irritant, allergen
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