ISSN:
1365-2222
Source:
Blackwell Publishing Journal Backfiles 1879-2005
Topics:
Medicine
Notes:
IL-4 gene cluster on chromosome 5 contains several candidate genes for atopy and asthma. Several independent studies have shown evidence for linkage between the markers flanking IL-4 gene cluster and asthma and/or asthma-related traits. Interferon regulatory factor 1 (IRF-1) is located approximately 300 kb telomeric to IL-4 and recent study reveals that IRF-1 deficiency results in an elevated production of Th2-related cytokines and a compensatory decrease in the expression of native cell- and Th1-related cytokines.〈section xml:id="abs1-2"〉〈title type="main"〉ObjectiveTo determine if there are any mutations associated with the development of atopy and asthma present in the coding exons and 5′ flanking region of the IRF-1 gene.〈section xml:id="abs1-3"〉〈title type="main"〉Methods and resultsWe have screened the promoter and coding regions of the IRF-1 gene in atopic asthmatics and controls by SSCP method. We found three novel nuclear variants (the −300G/T and 4396 A/G polymorphisms and the 6355G 〉 A rare variant) in the IRF-1 gene. No variants causing amino acid alterations of IRF-1 were detected. The −300G/T polymorphism was in nearly complete linkage disequilibrium with the 4396 A/G polymorphism. An association between the 4396 A 〉 G polymorphism and atopy/asthma was examined by transmission disequilibrium test in 81 asthmatic families. Either of 4396 A or 4396G alleles was not significantly preferentially transmitted to atopy- or asthma-affected children.〈section xml:id="abs1-4"〉〈title type="main"〉ConclusionThe IRF-1 gene is less likely to play a substantial role in the development of atopy and asthma in the Japanese population.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1046/j.1365-2222.2000.00916.x
