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Pharmacogenomics J ; 13(6): 523-9, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22986918

RESUMO

Recent genome-wide association studies linked childhood asthma with single-nucleotide polymorphisms (SNPs) in ORM1-like protein 3 (ORMDL3) gene region on chromosome 17q21. We analyzed the effect of functional SNP rs2872507 in ORMDL3 gene region on the response to antiasthmatic treatment with inhaled corticosteroids (ICSs) and ORMDL3 gene expression. Forced expiratory volume in 1 s increased significantly by 13.3% of predicted value after therapy in atopic asthmatics with AA genotype, compared with 7.0% in heterozygotes and 4.9% increase in GG homozygotes (P=0.0176). Median relative expression of ORMDL3 gene in asthmatics with AA, AG and GG genotypes was 0.75, 1.05 and 1.21, respectively (P<0.0001). Treatment with ICSs was significantly associated with the increase of median relative expression of ORMDL3 gene, from 0.88 to 1.21 (P=0.0032) in atopic asthmatics. Our results suggest that rs2872507 is associated with ORMDL3 gene expression and with ICS treatment response in children with atopic asthma.


Assuntos
Corticosteroides/uso terapêutico , Asma/genética , Cromossomos Humanos Par 17 , Proteínas de Membrana/genética , Polimorfismo de Nucleotídeo Único , Administração por Inalação , Corticosteroides/administração & dosagem , Asma/tratamento farmacológico , Sequência de Bases , Estudos de Casos e Controles , Criança , Estudos de Coortes , Primers do DNA , Frequência do Gene , Heterozigoto , Homozigoto , Humanos , Reação em Cadeia da Polimerase
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