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Am J Respir Crit Care Med ; 164(11): 2036-44, 2001 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-11739132

RESUMO

Numerous asthma and atopy loci have been reported in studies demonstrating associations of the asthma-related phenotypes atopy, elevated IgE levels, and bronchial hyperresponsiveness with alleles of microsatellite markers and single-nucleotide polymorphisms (SNPs) within specific cytokine/chemokine and IgE-regulating genes. Although the studies reporting these observations are compelling, most of them lack statistical power. We assessed the nature, pattern, and frequency of SNPs in 24 candidate genes in Iceland and looked for associations with asthma and atopy. We identified 42 SNPs with an average minor allele frequency of 20.3% (asthma) and 20.7% (control). Twenty SNPs (48%) were within coding sequences and 90% of those led to a predicted change in protein sequence. No differences were detected in the allelic frequencies of SNPs in any of these candidate genes between control subjects and the patients with atopic asthma. Moreover, linkage analysis that included 269 patients with atopic asthma uncovered no evidence of linkage to markers associated with these genes. We conclude that this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.


Assuntos
Asma/epidemiologia , Asma/genética , Hiper-Reatividade Brônquica/epidemiologia , Hiper-Reatividade Brônquica/genética , Frequência do Gene/genética , Predisposição Genética para Doença/genética , Hipersensibilidade Imediata/epidemiologia , Hipersensibilidade Imediata/genética , Polimorfismo de Nucleotídeo Único/genética , Adolescente , Adulto , Asma/sangue , Asma/diagnóstico , Asma/imunologia , Hiper-Reatividade Brônquica/sangue , Hiper-Reatividade Brônquica/diagnóstico , Hiper-Reatividade Brônquica/imunologia , Estudos de Casos e Controles , Criança , Análise por Conglomerados , Feminino , Ligação Genética/genética , Genótipo , Humanos , Hipersensibilidade Imediata/sangue , Hipersensibilidade Imediata/diagnóstico , Hipersensibilidade Imediata/imunologia , Islândia/epidemiologia , Imunoglobulina E/sangue , Masculino , Pessoa de Meia-Idade , Fenótipo , Testes Cutâneos
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