RESUMO
BACKGROUND: Before the advent of genome-wide association studies (GWAS), ADAM33, ADRB2, CD14, MS4A2 (alias FCER1B), IL13, IL4, IL4R, and TNF constituted the most replicated non-HLA candidate genes with asthma and related traits. However, except for the IL13-IL4 region, none of these genes have been found in close proximity of genome-wide significant hits among GWAS for asthma or related traits. Here we aimed to assess the reproducibility of these asthma associations and to test if associations were more evident considering the effect of age at diagnosis. METHODOLOGY/PRINCIPAL FINDINGS: We systematically evaluated 286 common single nucleotide polymorphisms (SNPs) of these 8 genes in a sample of 1,865 unrelated Spanish individuals (606 asthmatics and 1,259 controls). We found that variants at MS4A2, IL4R and ADAM33 genes demonstrated varying association effects with the age at diagnosis of asthma, with 10 SNPs showing study-wise significance after the multiple comparison adjustment. In addition, in silico replication with GWAS data supported the association of IL4R. CONCLUSIONS/SIGNIFICANCE: Our results support the important role of MS4A2, IL4R and ADAM33 genes in asthma and/or atopy susceptibility. However, additional studies in larger samples sets are needed to firmly implicate these genes in asthma susceptibility, and also to identify the causal variation underlying the associations found.
Assuntos
Asma/diagnóstico , Asma/genética , Polimorfismo de Nucleotídeo Único , Proteínas ADAM/genética , Adolescente , Adulto , Alelos , Estudos de Casos e Controles , Criança , Mapeamento Cromossômico , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Subunidade alfa de Receptor de Interleucina-4/genética , Razão de Chances , Receptores de IgE/genética , Adulto JovemRESUMO
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Assuntos
Humanos , Hipersensibilidade a Drogas/diagnóstico , Dessensibilização Imunológica , Testes Cutâneos , Exantema/diagnóstico , Diagnóstico DiferencialRESUMO
Many children with adverse reactions to beta-lactams are labeled as allergic without performing an allergy study to confirm it. In this retrospective study of 10 years, we detected only 3.3% positive cases. Although international guidelines recommend a second allergy workup in patients with a negative study, we found from our results a low profitability of retesting.
Assuntos
Hipersensibilidade/diagnóstico , Hipersensibilidade/epidemiologia , beta-Lactamas/efeitos adversos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Prevalência , Estudos RetrospectivosRESUMO
Sensitization to Thyreophagus entomophagus, a storage mite, is uncommon and might produce occupational respiratory disorders in farmers. We present the first case of a child suffering anaphylaxis produced by ingestion of contaminated flour with Thyreophagus entomophagus.
