Journal Article

Clustering patterns of LOD scores for asthma-related phenotypes revealed by a genome-wide screen in 295 French EGEA families

Emmanuelle Bouzigon, Marie-Hélène Dizier, Christine Krähenbühl, Arnaud Lemainque, Isabella Annesi-Maesano, Christine Betard, Jean Bousquet, Denis Charpin, Frédéric Gormand, Michel Guilloud-Bataille, Jocelyne Just, Nicole Le Moual, Jean Maccario, Régis Matran, Françoise Neukirch, Marie-Pierre Oryszczyn, Evelyne Paty, Isabelle Pin, Myriam Rosenberg-Bourgin, Daniel Vervloet, Francine Kauffmann, Mark Lathrop and Florence Demenais

in Human Molecular Genetics

Volume 13, issue 24, pages 3103-3113
Published in print December 2004 | ISSN: 0964-6906
Published online December 2004 | e-ISSN: 1460-2083 | DOI:
Clustering patterns of LOD scores for asthma-related phenotypes revealed by a genome-wide screen in 295 French EGEA families

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A genome-wide scan for asthma phenotypes was conducted in the whole sample of 295 EGEA families selected through at least one asthmatic subject. In addition to asthma, seven phenotypes involved in the main asthma physiopathological pathways were considered: SPT (positive skin prick test response to at least one of 11 allergens), SPTQ score being the number of positive skin test responses to 11 allergens, Phadiatop® (positive specific IgE response to a mixture of allergens), total IgE levels, eosinophils, bronchial responsiveness (BR) to methacholine challenge and %predicted FEV1. Four regions showed evidence for linkage (P≤0.001): 6q14 for %FEV1, 12p13 for IgE, 17q22–q24 for SPT and 21q21 for both SPTQ and %FEV1. Nine other regions indicated smaller linkage signals (0.001<P≤0.005). While most of these regions have been reported by previous asthma and lung function screens, 6q14 appears to be a new region potentially linked to %FEV1. To determine which of these various asthma phenotypes are more likely to share common genetic determinants, a principal component analysis was applied to the genome-wide LOD scores. This analysis revealed clustering of LODs for asthma, SPT and Phadiatop® on one axis and clustering of LODs for %FEV1, BR and SPTQ on the other, while LODs for IgE and eosinophils appeared to be independent from all other LODs. These results provide new insights into the potential sharing of genetic determinants by asthma-related phenotypes.

Journal Article.  8081 words.  Illustrated.

Subjects: Genetics and Genomics

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