Cox H E, Moffatt M F, Faux J A, Walley A J, Coleman R, Trembath R C, Cookson W O, Harper J I
Asthma Genetics Group, Nuffield Department of Medicine, John Radcliffe Hospital, Oxford, U.K.
Br J Dermatol. 1998 Jan;138(1):182-7. doi: 10.1046/j.1365-2133.1998.02108.x.
IgE dysregulation is a major pathogenic feature of atopic dermatitis and other IgE-mediated allergic diseases such as asthma and rhinitis. Allergen complexed to IgE binds to the high affinity receptor for IgE (Fc epsilon RI) on the surface of epidermal Langerhans cells, mast cells and basophils, triggering the release of inflammatory mediators. The beta subunit of Fc epsilon RI has been localized to human chromosome 11q12-13, and variants within this gene have been shown to associate with asthma and measures of atopy. We have tested several polymorphisms within Fc epsilon RI-beta for association to atopic dermatitis in a panel of 60 families (panel A), recruited through a proband with atopic dermatitis. The findings were tested in a second panel of families (panel B). Significant sharing of maternal alleles was seen for atopic dermatitis and allele 2 of RsaI intron 2 (RsaIvin22) (P = 0.0022) and allele 1 of RsaI exon 7 (RsaIvex71) (P = 0.0036) Fc epsilon RI-beta gene polymorphisms. These findings were replicated in Panel B, confirming the association of Fc epsilon RI-beta RsaI polymorphisms with atopic dermatitis. The combined significance of the association of atopic dermatitis to RsaI polymorphisms was P = 0.0002 (RsaIvin22) and P = 0.00034 (RsaIvex71). The polymorphisms also showed association with asthma: P = 0.0068 (RsaIvin22) and P = 0.018 (RsaIvex71). Polymorphisms within the Fc epsilon RI-beta gene are strongly associated with atopic dermatitis.
IgE调节异常是特应性皮炎以及其他IgE介导的过敏性疾病（如哮喘和鼻炎）的主要致病特征。与IgE结合的变应原与表皮朗格汉斯细胞、肥大细胞和嗜碱性粒细胞表面的IgE高亲和力受体（FcεRI）结合，触发炎症介质的释放。FcεRI的β亚基已定位于人类染色体11q12 - 13，该基因内的变异已显示与哮喘和特应性指标相关。我们在一组60个家庭（A组）中检测了FcεRI-β内的几种多态性与特应性皮炎的关联性，这些家庭是通过一名患有特应性皮炎的先证者招募而来。研究结果在另一组家庭（B组）中进行了验证。特应性皮炎与RsaI内含子2的等位基因2（RsaIvin22）（P = 0.0022）以及RsaI外显子7的等位基因1（RsaIvex71）（P = 0.0036）的FcεRI-β基因多态性存在显著的母系等位基因共享。这些结果在B组中得到重复，证实了FcεRI-β RsaI多态性与特应性皮炎的关联。特应性皮炎与RsaI多态性关联的综合显著性为P = 0.0002（RsaIvin22）和P = 0.00034（RsaIvex71）。这些多态性还与哮喘相关：P = 0.0068（RsaIvin22）和P = 0.018（RsaIvex71）。FcεRI-β基因内的多态性与特应性皮炎密切相关。
