title: IL-4 receptor alpha chain genetic polymorphism and total IgE levels in the English population: two-locus haplotypes are more informative than individual SNPs.
abstract: The IL-4RA locus encodes for the alpha chain of the IL-4 receptor, and is both a functional and positional candidate gene for atopy and allergic disease. Recently Ober et al. have shown that the study of haplotypes at multiple loci in the IL-4RA gene could be more informative than the separate study of single nucleotide polymorphisms (SNPs). One hundred and fifty subjects affected by atopic asthma and 150 healthy control subjects were studied in the English population (Oxford district). Subjects and controls were genotyped for the Ile50Val, Ser478Pro and Gln551Arg polymorphism of the IL-4 receptor alpha chain. The distribution of haplotypes 50-478 shows a highly significant association with IgE levels. In particular, the haplotype Val50/Pro478 is much less frequent in subjects with IgE levels > 100 U mL-1 than in those with IgE levels < 100 U mL-1. Furthermore, the distribution of haplotype 50-551 shows a weak association with IgE levels that is lacking for 478-551 haplotypes. A lower frequency of the Val50/Pro478 haplotype is also observed among asthmatic subjects as compared to healthy controls. With regard to individual SNPs (50 478 and 551), no significant association has been observed with IgE levels or with asthma, thus confirming the higher informative value of the haplotype analysis as compared to separate study on SNPs.
authors.affiliation: Experimental Medicine Unit, University of Wales Swansea, UK.
authors.forename: N
authors.initials: N
authors.lastname: Bottini
authors.forename: P
authors.initials: P
authors.lastname: Borgiani
authors.forename: A
authors.initials: A
authors.lastname: Otsu
authors.forename: P
authors.initials: P
authors.lastname: Saccucci
authors.forename: L
authors.initials: L
authors.lastname: Stefanini
authors.forename: E
authors.initials: E
authors.lastname: Greco
authors.forename: L
authors.initials: L
authors.lastname: Fontana
authors.forename: J M
authors.initials: JM
authors.lastname: Hopkin
authors.forename: X-Q
authors.initials: XQ
authors.lastname: Mao
authors.forename: T
authors.initials: T
authors.lastname: Shirakawa
mesh_terms: D004739:England; D006239:Haplotypes; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood*; D015810:Linkage Disequilibrium; D020641:Polymorphism, Single Nucleotide; D019948:Receptors, Interleukin-4 / Q000235:genetics*
chemical_list: D019948:Receptors, Interleukin-4; D007073:Immunoglobulin E