科研之友
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摘要
Background Asthma is a genetically complex disease, and is characterized by elevated serum immunoglobulin E (IgE) levels, elevated blood eosinophil counts and increased airway responsiveness. Polymorphisms in the beta subunit of the high affinity receptor for IgE (Fc epsilon R1-beta) have been previously associated with these phenotypes and with an increased risk of asthma.
Objective To investigate the association of all known bi-allelic polymorphisms in Fc epsilon R1-beta to asthma and quantitative traits associated with asthma in a selected sample of Australian asthmatic children and their nuclear families.
Methods Australian Caucasian nuclear families (n = 134 subjects) were recruited on the basis of a child proband with current, severe, symptomatic asthma. The quantitative traits assessed included serum levels of total IgE and specific IgE to house dust mite and mixed grass, blood eosinophil counts and the dose-response slope of the forced expiratory volume in is to histamine provocation.
Results Neither the Leu181 nor the E237G mutations were detected in this population. Allele B of RsaI intron 2 (RsaI-in2*B) was significantly associated with physician-diagnosed asthma lever) (P = 0.002). Alleles of both the RsaI-in2 and RsaI exon 7 (RsaI-ex7) polymorphisms were significantly associated with log, total serum IgE levels and the combined RAST index. RsaI-ex7 was also associated with log, blood eosinophil counts. These associations were independent of age, sex and familial correlations.
Conclusion This study supports a role for the Fc epsilon R1-beta gene or a nearby gene in the pathogenesis of asthma.
- 出版日期1999-11
