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National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-.

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Genes and Disease [Internet].

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Asthma

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Asthma affects more than 5% of the population of the US, including children. It is a chronic inflammatory disorder of the airways characterized by coughing, shortness of breath, and chest tightness. A variety of "triggers" may initiate or worsen an asthma attack, including viral respiratory infections, exercise, and exposure to irritants such as tobacco smoke. The physiological symptoms of asthma are a narrowing of the airways caused by edema (fluid in the intracellular tissue space) and the influx of inflammatory cells into the walls of the airways.

Asthma is a what is known as a "complex" heritable disease. This means that there are a number of genes that contribute toward a person's susceptibility to a disease, and in the case of asthma, chromosomes 5, 6, 11, 14, and 12 have all been implicated. The relative roles of these genes in asthma predisposition are not clear, but one of the most promising sites for investigation is on chromosome 5. Although a gene for asthma from this site has not yet been specifically identified, it is known that this region is rich in genes coding for key molecules in the inflammatory response seen in asthma, including cytokines, growth factors, and growth factor receptors.

The search for specific asthma genes is ongoing. Assisting in this international human effort are model organisms such as mice, which have similar chromosomal architecture to our chromosome 5 site on their chromosomes 11, 13, and 18. Further study of the genes in these areas (and others) of the human genome will implicate specific genes involved in asthma and perhaps also suggest related biological pathways that play a role in the pathogenesis of asthma.

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