Department of Laboratory Medicine, Shanghai First People's Hospital, Shanghai Jiaotong University, Shanghai, People's Republic of China.
Hum Immunol. 2012 Mar;73(3):301-5. doi: 10.1016/j.humimm.2011.12.001. Epub 2011 Dec 11.
The high-affinity receptor for immunoglobulin E (IgE) plays a central role in allergy diseases. Previous studies have reported the association of variants in the proximal promoter of FCER1A with IgE levels as well as allergy disorders. Another promoter gene polymorphism that is located upstream of exon 1 has not been investigated. We investigated the association of variants in the promoter located upstream of FCER1A exon 1 with serum IgE levels and allergy diseases in a Han Chinese population. A total of 97 patients with atopic dermatitis (AD), 123 patients with chronic urticaria (CU), 286 children with asthma, and control groups were screened for polymorphisms in the promoter region located upstream of FCER1A exon 1 by the polymerase chain reaction-ligation detection reaction method. Total serum IgE levels were tested in groups. The rare allele A of the rs2427837 A/G polymorphism was significantly different in the AD group compared with the controls. No association with the polymorphism was observed in the CU group. In asthmatic patients, IgE levels were higher in the mutation genotypes GA of rs2427837 and TC of rs2251746 compared with normal genotype individuals. The minor allele of rs2427837 and rs2251746 in FCER1A is a genetic risk factor of high IgE levels.
免疫球蛋白 E（IgE）的高亲和力受体在过敏疾病中发挥核心作用。先前的研究报告了 FCER1A 近端启动子中的变异与 IgE 水平以及过敏疾病的关联。另一个位于外显子 1 上游的启动子基因多态性尚未被研究。我们研究了 FCER1A 外显子 1 上游启动子中的变异与汉族人群血清 IgE 水平和过敏疾病的关系。通过聚合酶链反应-连接检测反应法，筛选了 97 例特应性皮炎（AD）患者、123 例慢性荨麻疹（CU）患者、286 例哮喘儿童和对照组的 FCER1A 外显子 1 上游启动子区的多态性。对各组进行了血清总 IgE 水平的检测。与对照组相比，AD 组 rs2427837 A/G 多态性的稀有等位基因 A 明显不同。CU 组与该多态性无关联。在哮喘患者中，与正常基因型个体相比，rs2427837 的 GA 突变基因型和 rs2251746 的 TC 突变基因型的 IgE 水平更高。FCER1A 中的 rs2427837 和 rs2251746 的次要等位基因是高 IgE 水平的遗传风险因素。
