ClinVar

Heinzmann et al. (2000) determined that R130Q variant of IL13, which they referred to as R110Q, associated with asthma in case-control populations from Britain and Japan (peak odds ratio (OR) = 2.31, 95% confidence interval, 1.33 - 4.00); the variant also predicted asthma and higher serum IL13 levels in a general, Japanese pediatric population. Chen et al. (2004) noted that R110Q numbering does not include a 20-amino acid signal sequence and that the R110Q variant has been referred to as R130Q. Immunohistochemistry demonstrated that both subunits of IL13R are prominently expressed in bronchial epithelium and smooth muscle from asthmatic subjects. Detailed molecular modeling analyses indicated that residue 110 of IL13 is important in the internal constitution of the ligand and crucial in ligand-receptor interaction.

In Chinese adult patients with allergic rhinitis (607154), Wang et al. (2003) found a significant association of the IL13 arg130-to-gln (R130Q) SNP, but not of the IL13 promoter -1112C-T SNP (147683.0001), with serum total IgE levels. Patients with a gln/gln genotype showed much higher serum total IgE than those with an arg/arg genotype.

Hiromatsu et al. (2005) noted that the R130Q amino acid substitution arises from a G-to-A transition at nucleotide 2044 (G2044A) in exon 4 of the IL13 gene.

Vladich et al. (2005) examined the impact of the IL13 R130Q variant on the functional properties of IL13 by comparing the activity of the variant to wildtype IL13 on primary effector cells of human allergic inflammation. IL13 R130Q was significantly more active than wildtype IL13 in multiple effector assays and was neutralized less effectively by an IL13R-alpha-2 decoy. Vladich et al. (2005) suggested that natural variation in the coding region of IL13 may be an important genetic determinant of susceptibility to allergy.