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Epidemiologic Study of the Genetics and Environment of Asthma, Bronchial Hyperresponsiveness, and Atopy*

Francine Kauffmann, MD; Marie-Hélène Dizier, PhD; Marie-Pierre Oryszczyn, BS; Nicole Le Moual, MS; Valérie Siroux, PhD(c); Isabella Annesi-Maesano, PhD; Jean Bousquet, MD; Denis Charpin, MD; Josué Feingold, MD; Frédéric Gormand, MD; Alain Grimfeld, MD; Joelle Hochez, MS; Mark Lathrop, PhD; Régis Matran, MD; Françoise Neukirch, MD; Evelyne Paty, MD; Isabelle Pin, MD; Florence Demenais, MD
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*From Epidemiology and Biostatistics (Drs. Kauffmann and Annesi-Maesano, and Mss. Le Moual and Siroux), Institut National de la Santé et de la Recherche Médicale (INSERM) U472, Villejuif, France; INSERM U535 (Dr. Dizier), Kremlin-Bicêtre, France; Arnaud de Villeneuve Hospital (Dr. Bousquet), Montpellier, France; INSERM U393 (Dr. Feingold), U155 (Mr. Hochez), and U408 (Dr. Neukirch), Paris, France; Unité propre de L’ensignement Supérieur 2051 (Dr. Charpin), Marseille, France; Lyon Sud Hospital (Dr. Gormand), Lyon, France; Trousseau Hospital (Dr. Grimfeld), Paris, France; Centre National de Génotypage (Dr. Lathrop), Evry, France; Cochin Hospital (Dr. Matran), Paris, France; Necker Hospital (Dr. Paty), Paris, France; Albert Michallon Hospital (Dr. Pin), Grenoble, France; and Equipe mixte INSERM 00-06 (Dr. Demenais), Evry, France.

Correspondence to: Francine Kauffmann, MD, Institut National de la Santé et de la Recherche Médicale (INSERM), Epidémiologie Biostatistique U 472, 16 Ave Paul Vaillant Couturier, 94807 Villejuif cedex, France; e-mail: kauffmann@vjf.inserm.fr



Chest. 2002;121(3_suppl):27S. doi:10.1378/chest.121.3_suppl.27S
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The Epidemiologic Study on the Genetics and Environment of Asthma (EGEA) was planned to assess genetic and environmental risk factors and their interactions in patients with asthma and for the two related traits of bronchial hyperresponsiveness and atopy. The study was performed from 1991 to 1995 and combined a case control study and a study of the families of the asthmatic patients. A synthesis of the results already obtained is presented. Smoking was related to IgE levels, even in asthma patients. Smoking was clearly related to the clinical severity of the asthma, which is clinically insufficiently taken into account. The relationships of occupational exposures to asthma have been assessed using a job exposure matrix. Segregation analyses of IgE have shown, after correction for the mode of ascertainment, the existence of a dominant major gene and a familial residual correlation. A systematic genome screen used in families with two asthmatic siblings showed a linkage of various regions in the genome that are related to asthma or related phenotypes (ie, 1p, 11p, 11q, 12q, 13q, 17q, and 19q), results that are in agreement with those of genome screens used in other studies. Regarding candidate genes, no association was shown between asthma and the ΔF508 mutation of the cystic fibrosis gene. The analysis is still in progress with studies on the heterogeneity of asthma, with refined genetic studies, and by searching to integrate the results regarding environmental and genetic factors and studying their interactions.

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