Single nucleotide polymorphisms (SNPs) in the gene encoding the interleukin-4 receptor alpha chain (IL-4R alpha) have been associated with IgE levels or clinical atopy in some populations. Two SNPs that encode S503P and Q576R in the intracytoplasmic domain of the receptor are associated with loss or gain of function, respectively. We investigated the frequency of these SNPs and their association with traits of allergic asthma in 36 unrelated subjects selected from a racially admixed, clinically ascertained study population with family histories of asthma. The frequency of the 1682 T to C substitution that encodes S503P was 0.11 (70 alleles analyzed, from 29 TT homozygotes and 6 TC heterozygotes). The frequency of the 1902 A to G substitution that encodes Q576R was 0.26 (68 alleles analyzed, from 20 AA homozygotes, 10 AG heterozygotes and 4 GG homozygotes). In this atopic admixed sample, no significant association was detected between the variant genotypes and serum IgE levels, percentage of eosinophils, skin test reactivity, diagnosis of asthma or methacholine reactivity. More conclusive findings await clinical characterization of non-atopic, non-asthmatic subjects as well as more efficient and extensive haplotyping.
|Original language||English (US)|
|Number of pages||5|
|Journal||Cellular and molecular biology (Noisy-le-Grand, France)|
|State||Published - Dec 2003|
ASJC Scopus subject areas
- Molecular Biology
- Cell Biology