title: Identification of four novel interleukin-13 gene polymorphisms.
abstract: The development of allergic asthma is thought to involve environmental and inherited genetic components and has pathophysiological features reflecting in part the activity of T cell cytokines. Interleukin-13, a product primarily of activated lymphocytes, is considered to be a critical effector molecule in allergic airway response and has been found to be overexpressed in the airways of patients with asthma. The IL-13 gene is located on chromosome 5q31, one of the major loci to be linked to asthma susceptibility, and amongst a cluster of genes which dominate the immunopathology of allergic disease. Recently, an IL-13 promoter polymorphism was found to be associated with allergic asthma. In the present study we report the identification of four novel biallelic polymorphisms in the IL-13 gene, two intronic and two exonic, one of which results in a basic to hydrophilic amino acid change. We characterised the frequencies of these four biallelic polymorphisms and the frequencies of the haplotypes, resulting from the combination of these four biallelic polymorphisms, in a population of 196 UK Caucasoid healthy individuals.
authors.affiliation: Interstitial Lung Disease Unit, Imperial College of Science, Technology and Medicine, National Heart and Lung Institute, London, UK.
authors.forename: P
authors.initials: P
authors.lastname: Pantelidis
authors.forename: M G
authors.initials: MG
authors.lastname: Jones
authors.forename: K I
authors.initials: KI
authors.lastname: Welsh
authors.forename: A N
authors.initials: AN
authors.lastname: Taylor
authors.forename: R M
authors.initials: RM
authors.lastname: du Bois
mesh_terms: D000483:Alleles; D001249:Asthma / Q000235:genetics / Q000276:immunology; D001483:Base Sequence; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D018793:Interleukin-13 / Q000235:genetics*; D007438:Introns; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D006113:United Kingdom
chemical_list: D017931:DNA Primers; D018793:Interleukin-13