Novel genetic variation of human interleukin-21 receptor is associated with elevated IgE levels in females

M Hecker, A Bohnert, I R König, G Bein, H Hackstein
2003 Genes and Immunity  
The interleukin-21 receptor (IL21R) was recently discovered as a novel member of the class-I-cytokine-receptor family and is selectively expressed in lymphoid tissues. IL21R shows strong sequence homologies to the interleukin-4 receptor a chain gene (IL4RA). In addition, both genes are adjacent and share structural similarity. We analyzed all the exons of the human IL21R gene and its 5 0 flanking region for sequence variation. We identified four novel single nucleotide polymorphisms (SNPs) and
more » ... rphisms (SNPs) and genotyped 300 healthy blood donors. Total serum IgE levels were measured in all subjects and associated with IL21R SNPs. Results revealed a significant association of one IL21R polymorphism (T-83C) with elevated IgE levels (4100 kU/I) in females (OR ¼ 3.000, CI ¼ [1.163;8.385], P ¼ 0.015, n ¼ 138). This was confirmed in a second prospectively collected group of female blood donors (OR ¼ 2.535, CI ¼ [0.927;6.733], P ¼ 0.046, n ¼ 123). In contrast, no effects were observed in male subjects in either population. These findings identify IL21R as a possible novel target locus influencing IgE synthesis in female individuals.
doi:10.1038/sj.gene.6363954 pmid:12700598 fatcat:mroimagjsrbm5f6hjrxfyf7szi