A Large-Scale, Consortium-Based Genomewide Association Study of Asthma

This genomewide association study implicates variants of SMAD3 in susceptibility to asthma and confirms previously observed genetic associations. The study implicates molecules that mediate the communication of epithelial damage to the immune system. Asthma is a syndrome of unknown origins that is c...

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Veröffentlicht in:The New England journal of medicine 2010-09, Vol.363 (13), p.1211-1221
Hauptverfasser: Moffatt, Miriam F, Gut, Ivo G, Demenais, Florence, Strachan, David P, Bouzigon, Emmanuelle, Heath, Simon, von Mutius, Erika, Farrall, Martin, Lathrop, Mark, Cookson, William O.C.M
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Sprache:eng
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Zusammenfassung:This genomewide association study implicates variants of SMAD3 in susceptibility to asthma and confirms previously observed genetic associations. The study implicates molecules that mediate the communication of epithelial damage to the immune system. Asthma is a syndrome of unknown origins that is characterized by abnormal and inflamed mucosa of the airways, wheezing, and shortness of breath. In some patients, irreversible airway remodeling and intractable airflow limitation may develop. The disease has a high prevalence and a chronic relapsing course. Although some effective therapies exist for mild asthma, severe asthma remains difficult to treat. The societal cost of the disease is substantial. 1 , 2 Asthma runs strongly in families, and its heritability has been estimated as 60%. 3 Genetic studies offer a structured means of understanding the causes of asthma as well as identifying targets that . . .
ISSN:0028-4793
1533-4406
1533-4406
DOI:10.1056/NEJMoa0906312