Association of Filaggrin loss-of-function-mutations with atopic dermatitis and asthma in the Early Treatment of the Atopic Child (ETAC) population.
Pediatr Allergy Immunol
; 20(4): 358-61, 2009 Jun.
Article
en En
| MEDLINE
| ID: mdl-19538357
ABSTRACT
Many candidate gene studies for atopic dermatitis (AD) and associated phenotypes have been conducted so far, but replication of significant results has been a major problem. Two loss of function polymorphisms FLG R501X- and 2282del4, in the Filaggrin (FLG) gene encoding for an epidermal barrier protein were recently identified. They were reported to be predisposing factors for AD and concomitant asthma. Several groups confirmed the initial results in independent populations. The aim of this study is to further investigate the importance of these FLG variants in the development of AD and subsequent asthma symptoms in pre-school children, we investigated children and parents of the Early Treatment of the Atopic Child (ETAC)-trial. We genotyped 496 children and 488 parents of the ETAC population for the two FLG variants, evaluating an association by family based analysis (transmission disequilibrium test). We found a highly significant association of the FLG null variants R501X- and 2282del4 with AD (combined genotype p < 0.0001) and asthma (combined genotype p < 0.0001). The replication and its statistical significance underlines the importance of the FLG polymorphisms and the importance of the skin barrier function in the development of AD and subsequent asthma.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Asma
/
Predisposición Genética a la Enfermedad
/
Dermatitis Atópica
/
Proteínas de Filamentos Intermediarios
Tipo de estudio:
Clinical_trials
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Humans
/
Infant
Idioma:
En
Revista:
Pediatr Allergy Immunol
Asunto de la revista:
ALERGIA E IMUNOLOGIA
/
PEDIATRIA
Año:
2009
Tipo del documento:
Article
País de afiliación:
Alemania