Promoter analysis of IL-4R gene and its possible associateion of atopic dermatitis

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The gene encoding the interleukin-4 receptor alpha chain (IL4R) has received attention as a candidate gene for atopic diseases, and associations have been reported between functionally significant coding polymorphisms of the gene and atopic diseases (Khurana et al. 1997; Mitsuyasu et al. 1998; Oiso et al 2000). Recently, Ober et al. (2000) suggested that the variations outside the coding region of the IL4R gene influence the susceptibility for atopy and asthma. Therefore, we investigated the 5'-flanking region of the gene and identified four new polymorphisms in the IL4R transcriptional promoter: -327A/C, -326C/A, -186A/G, -184A/G. We carried out association study of these polymorphisms in patients with 111 cases of atopic dermatitis versus 82 normal controls. We also recruited 73 patients with psoriasis vulgaris as the second control group. We further investigated more upstream of the 5'-flanking region of the gene and identified two new polymorphisms: -1914T/C and -3223C/T. Frequency of these polymorphisms were examined in 118 patients with atopic dermatitis, 89 normal controls and 70 patients with psoriasis. We found that these polymorphisms have association with atopic dermatitis. Unexpectedly, we also found that four polymorphisms; -327A/C, -326C/A, -186A/G, -184A/G have association with psoriasis as well.