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J Intern Med. 2012 Aug;272(2):108-20. doi: 10.1111/j.1365-2796.2012.02555.x.

Pathophysiology of asthma: lessons from genetic research with particular focus on severe asthma.

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  • 1Institute of Environmental Medicine and Centre for Allergy Research, Karolinska Institutet, Stockholm, Sweden. erik.melen@ki.se

Abstract

There is good evidence that both inherited and environmental factors influence the risk of developing asthma. Only recently, large well-designed studies have been undertaken with the power to identify the genetic causes for asthma, and methods developed in parallel with the Human Genome Project, such as gene expression and epigenetic studies, have made large-scale analyses of functional genetics possible. In this review, we discuss the recent findings from genetic and genomic research studies of asthma, particularly severe asthma, and highlight specific genes for which there are multiple lines of evidence for involvement in asthma pathogenesis. Bio-ontologic enrichment analyses of the most recently identified asthma-related genes point to attributes such as 'molecular and signal transducer activity' and 'immune system processes', which indicates the importance of immunoregulation and inflammatory response in the pathogenesis of asthma. Finally, we discuss how genetic and environmental factors jointly influence asthma susceptibility and summarize how the results may increase understanding of the pathophysiology of asthma-related diseases.

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