PMID: identifiant
de la référence Pubmed : |
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 (17459892) |
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| titre : |
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Scores of asthma and asthma severity reveal new regions of linkage in EGEA families. |
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| auteur(s) : |
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Emmanuelle Bouzigon ( ) 1, Valérie Siroux2, Marie-Hélène Dizier3, Arnaud Lemainque4, Christophe Pison5, 6, Mark Lathrop4, Francine Kauffmann6, Florence Demenais1, Isabelle Pin3, Université d'Evry et Génopole® Collaboration(s) |
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| laboratoire : |
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| titre abrégé : |
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Genome screen for asthma quantitative scores |
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| résumé : |
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There is a debate on how asthma should be defined to progress in the understanding of underlying mechanisms. Our goal was to build quantitative scores of asthma and asthma severity and to assess whether refining disease phenotypes can facilitate the identification of chromosomal regions harboring susceptibility genes.A genome-wide linkage scan was conducted in 110 families with >/=2 asthmatic sibs (n=508) from the French Epidemiological Study on the Genetics and Environment of Asthma (EGEA). Phenotypes studied were an asthma severity score assessed among asthmatics by combining clinical data and treatment, forced expiratory volume in 1 second (FEV1) and an asthma score including both asthmatics and non-asthmatics and representing the whole disease spectrum.Our analysis showed genome-wide suggestive evidence for linkage of asthma score to 18p11 (p=0.0004), a novel region undetected by our previous screen of dichotomous asthma. There was potential linkage of 2p23 to asthma severity score (p=0.002) and of three regions to FEV1: 1p36 (p=0.004), 2q36 (p=0.003) and 6q14 (p=0.003). Moreover, FEV1 appeared to have no genetic determinant in common with asthma severity and asthma scores.Asthma and asthma severity quantitative scores revealed new regions of linkage and thus provides support for considering these phenotypes in future genetic studies. |
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| domaine : |
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Sciences du Vivant/Génétique
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langue du texte
intégral : |
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Anglais |
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| ISSN : |
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0903-1936 |
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| type de publication : |
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Articles dans des revues avec comité de lecture |
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| DOI : |
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10.1183/09031936.00162206 |
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| journal : |
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| European Respiratory Journal (Eur Respir J) |
| Publisher |
European Respiratory Society: ERJ |
| ISSN |
0903-1936 (eISSN : 1399-3003) |
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| Audience : |
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non spécifiée |
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| date de publication : |
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08/2007 |
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date de publication
électronique : |
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25/04/2007 |
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| volume : |
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30 |
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| numéro : |
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2 |
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| page, identifiant, ... : |
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253-259 |
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| mots-clés auteur : |
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asthma – asthma severity – genetic – heterogeneity – linkage analysis – lung function |
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| contrat, financement : |
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INSERM-Ministry of Research “Cohortes et Collections” grant (4CH06G) and by EU Framework programme for research, contract no. FOOD-CT-2004-506378, the GA2LEN project, Global Allergy and Asthma European Network |
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