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

编码白介素4受体阿尔法链(IL4R)的基因作为特应性疾病的候选基因已受到关注，已有报道称该基因的显著编码多态与特应性疾病之间存在关联(Khurana等人)。1997年；Mitsuyasu等人。1998年；Oiso等人2000年)。最近，Ober et al.(2000)提出IL4R基因编码区外的变异影响特应性和哮喘的易感性。因此，我们对该基因5‘侧翼区进行了研究，发现了IL4R转录启动子区的4个新的多态：-327A/C、-326C/A、-186A/G、-184A/G。我们对111例特应性皮炎患者和82例正常对照进行了关联研究。我们还招募了73例寻常型银屑病患者作为第二对照组。我们进一步研究了该基因5‘-侧翼区上游，发现了两个新的多态：-1914T/C和-3223C/T。检测了118例特应性皮炎患者、89例正常对照和70例银屑病患者中这两种多态的频率。我们发现这些基因多态性与特应性皮炎有关。出乎意料的是，我们还发现-327A/C、-326C/A、-186A/G、-184A/G四个基因多态性也与银屑病有关。

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.