Miriam F Moffatt1. 1. Molecular Genetics Group, National Heart and Lung Institute, Imperial College, London, UK. m.moffatt@imperial.ac.uk
Abstract
PURPOSE OF REVIEW: Asthma is a disease of unknown aetiology characterized by intermittent inflammation of the small airways of the lung. Asthma is familial due to an interaction between strong genetic and environmental factors. This article aims to review the current understanding of the genetic factors underlying asthma, looking historically as well as highlighting the latest developments in the field. RECENT FINDINGS: Findings from recent candidate gene studies and microsatellite genome screens have continued to highlight the importance of the epithelial barrier and its defence mechanisms in asthma. Completion of the human genome sequence and the advent of genome-wide association studies have resulted in the identification of two novel asthma susceptibility genes, ORMDL3 and CHI3L1, in the past year. SUMMARY: With the advances in genetics and genomics substantial steps have been taken in the last decade in understanding the genetic factors underlying asthma. Studies have highlighted the importance of the role of the epithelium with many of the genes so far identified being expressed in this key barrier. With the application of genome-wide expression, microRNA studies, metagenomics, proteomics and metabolomics the next decade will undoubtedly result in a further substantial increment in our understanding of the mechanisms underlying asthma.
PURPOSE OF REVIEW: Asthma is a disease of unknown aetiology characterized by intermittent inflammation of the small airways of the lung. Asthma is familial due to an interaction between strong genetic and environmental factors. This article aims to review the current understanding of the genetic factors underlying asthma, looking historically as well as highlighting the latest developments in the field. RECENT FINDINGS: Findings from recent candidate gene studies and microsatellite genome screens have continued to highlight the importance of the epithelial barrier and its defence mechanisms in asthma. Completion of the human genome sequence and the advent of genome-wide association studies have resulted in the identification of two novel asthma susceptibility genes, ORMDL3 and CHI3L1, in the past year. SUMMARY: With the advances in genetics and genomics substantial steps have been taken in the last decade in understanding the genetic factors underlying asthma. Studies have highlighted the importance of the role of the epithelium with many of the genes so far identified being expressed in this key barrier. With the application of genome-wide expression, microRNA studies, metagenomics, proteomics and metabolomics the next decade will undoubtedly result in a further substantial increment in our understanding of the mechanisms underlying asthma.
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