Association between an interleukin‐13 promoter polymorphism and atopy

Abstract

Several studies indicate genetic involvement of Th2 cytokines in allergic diseases. Interleukin (IL)-13 has been mapped to the cytokine cluster on chromosome 5q31-33, which has been associated with atopic conditions. Recently, an association was reported between the T allele in a promoter polymorphism in the IL-13 gene (C to T exchange) at position -1055 and allergic asthma in a population study in the Netherlands. This observation was apparently confirmed in a case-control study using probands and spouses from a Dutch asthma family study, but the polymorphism in that study was reported to occur at position -1111. In the present study, we established that this polymorphism is located at position -1024 relative to the ATG translation initiation codon, and investigated whether it confers a genetic predisposition to atopic conditions and the Th1 condition multiple sclerosis (MS) in Caucasian subjects. We confirmed the association between the IL-13 -1024TT genoype and inhalation allergy (P = 2.4E-02). By combining the data from the three studies, we demonstrated a strong association (P = 1.09E-05) between the IL-13 -1024 marker and inhalation allergy. Furthermore, we showed for the first time that this association also exists in atopic dermatitis (P = 2.0E-02). No association with MS was found.

Patterns of GATA3 and IL13 gene polymorphisms associated with childhood rhinitis and atopy in a birth cohort

“…IL13 is a small gene, approximately 3 kb in size, that has been genetically evaluated in a number of studies. [8][9][10][11][12][13][14]18 The IL13 SNPs genotyped in the present study span from the promoter to the 3′ untranslated region (UTR) and identify 1 linkage disequilibrium block. The GATA3 gene is approximately 20 kb in length, including introns.…”

“…7 IL13 is an important cytokine involved in the IgE pathway, and IL13 is one of the genes most consistently associated with asthma and IgE-related phenotypes in association studies. [8][9][10][11][12][13][14] An association of the IL13 gene with serum IgE levels was shown in patients with allergic rhinitis but not with allergic rhinitis itself. 15 Because of the critical role of GATA3 in T H 2 cell development and its role in regulating expression of IL4, IL5, and IL13, we believed it is important to examine GATA3 along with IL13.…”

Molecular Genetic of Atopic Dermatitis : An Update

“…(115) While significant association between the -1024C > T SNP of the IL13 gene and AD was confirmed in German. (116) In the Japanese population there was no significant association between two SNPs of 704A > C and 1103C > T whereas the Arg allele of Arg144Gln SNP was significantly associated with an increased risk of AD in Japanese. (115) As well as the Arg 130 Gln polymorphism was confirmed in Canadian, (117) German, (116) and Japanese.…”

“…(116) In the Japanese population there was no significant association between two SNPs of 704A > C and 1103C > T whereas the Arg allele of Arg144Gln SNP was significantly associated with an increased risk of AD in Japanese. (115) As well as the Arg 130 Gln polymorphism was confirmed in Canadian, (117) German, (116) and Japanese. (115) The A allele of the Arg144Gln SNP was associated with AD in German.…”

IL13genetic polymorphisms, smoking, and eczema in women: a case-control study in Japan

“…Another Japanese case-control study, which included patients with atopic eczema aged 11-61 years, showed a significant association between SNP rs20541 and atopic eczema [8]. Of the genetic association studies conducted in countries other than Japan, to our knowledge, only 1 case-control study of Danish subjects aged 17-66 years found a significant relationship between SNP rs1800925 and atopic eczema [9]. In contrast, a null association between SNP rs1800925 and eczema was observed in studies of Canadian [10], US [11], and UK [13] children as well as in a study of children aged 8-12 years from 13 countries [14] and a study of Taiwanese young adults [12].…”