Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness.
Nature
; 418(6896): 426-30, 2002 Jul 25.
Article
em En
| MEDLINE
| ID: mdl-12110844
ABSTRACT
Asthma is a common respiratory disorder characterized by recurrent episodes of coughing, wheezing and breathlessness. Although environmental factors such as allergen exposure are risk factors in the development of asthma, both twin and family studies point to a strong genetic component. To date, linkage studies have identified more than a dozen genomic regions linked to asthma. In this study, we performed a genome-wide scan on 460 Caucasian families and identified a locus on chromosome 20p13 that was linked to asthma (log(10) of the likelihood ratio (LOD), 2.94) and bronchial hyperresponsiveness (LOD, 3.93). A survey of 135 polymorphisms in 23 genes identified the ADAM33 gene as being significantly associated with asthma using case-control, transmission disequilibrium and haplotype analyses (P = 0.04 0.000003). ADAM proteins are membrane-anchored metalloproteases with diverse functions, which include the shedding of cell-surface proteins such as cytokines and cytokine receptors. The identification and characterization of ADAM33, a putative asthma susceptibility gene identified by positional cloning in an outbred population, should provide insights into the pathogenesis and natural history of this common disease.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Asma
/
Cromossomos Humanos Par 20
/
Metaloendopeptidases
/
Mapeamento Cromossômico
/
Hiper-Reatividade Brônquica
/
Predisposição Genética para Doença
Tipo de estudo:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
País/Região como assunto:
America do norte
/
Europa
Idioma:
En
Revista:
Nature
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Estados Unidos