Genome screen for asthma and related phenotypes in the French EGEA study

Am J Respir Crit Care Med. 2000 Nov;162(5):1812-8. doi: 10.1164/ajrccm.162.5.2002113.


A genome-wide search was conducted in 107 nuclear families with at least two siblings with asthma, as part of the French EGEA study. A two-stage analysis strategy was applied to the 107 families divided into two independent subsets of 46 and 61 families, where all regions detected in the first set of families were tested for replication in the second set. In addition, all regions reported by published genome scans in different populations were examined in the total sample. A total of 254 markers were typed in the first set of families and 70% of them in the second set. Linkage was investigated by model-free methods for asthma and four asthma-related phenotypes: bronchial responsiveness (BR), skin test response, total immunoglobulin E (IgE) levels, and eosinophil count. The two-stage analysis led to the detection of three regions: 11p13 for IgE, 12q24 for eosinophils, and 17q12-21 for asthma and skin tests. Among the regions reported by published genome screens, seven were found in the 107 French EGEA families: three being already detected by the two-stage analysis, 11p13 (p = 0.005), 12q24 (p = 0.0008), and 17q12-21 (p = 0.001), and four additional ones, 1p31 (p = 0.005) for asthma, 11q13 (p = 0.006) for IgE, 13q31 (p = 0.001) for eosinophils, and 19q13 (p = 0.02) for BR.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Asthma / genetics*
  • Asthma / immunology
  • Asthma / physiopathology
  • Bronchial Hyperreactivity
  • Child
  • Eosinophils
  • Female
  • France
  • Genetic Linkage
  • Genetic Markers
  • Genome*
  • Genotype
  • Humans
  • Immunoglobulin E / analysis
  • Leukocyte Count
  • Male
  • Microsatellite Repeats
  • Phenotype*
  • Skin Tests


  • Genetic Markers
  • Immunoglobulin E