F. Kauffmann et al., EPIDEMIOLOGIC-STUDY OF THE GENETICS AND ENVIRONMENT OF ASTHMA, BRONCHIAL HYPERRESPONSIVENESS, AND ATOPY - PHENOTYPE ISSUES, American journal of respiratory and critical care medicine, 156(4), 1997, pp. 123-129
Citations number
28
Categorie Soggetti
Emergency Medicine & Critical Care","Respiratory System
The Epidemiological Study of the Genetics and Environment of Asthma (E
G EA) combined a case-control study and a family study. The total samp
le of 1,854 consisted of 348 patients with asthma selected through che
st clinics and 416 control subjects and nuclear families ascertained t
hrough the cases. The protocol included standardized questionnaires, b
ronchial responsiveness, allergen skin-prick tests according to intern
ational protocols, total serum immunoglobulin E (IgE) level measuremen
ts, and blood eosinophilia. Criteria used to select subjects with asth
ma and determine asthma status of relatives for affected sibling pair
linkage analysis are described. Based on figures from the 348 asthma c
ases of the EGEA study, issues relative to the definition of severe as
thma and intermediate phenotypes such as bronchial responsiveness and
allergic markers are discussed. Given the phenotypic heterogeneity inv
olved, relevant phenotypes that may lead to the detection of genetic f
actors will depend on the hypothesis tested. Standardization of primar
y data and subphenotypes is a prerequisite for pooling data, which wil
l be needed in the future to better understand the genetics and enviro
nmental factors of asthma.