特应性皮炎患者IgE受体FcεRIα基因多态性研究

中华皮肤科杂志 ›› 2010, Vol. 43 ›› Issue (9): 626-628.

特应性皮炎患者IgE受体FcεRIα基因多态性研究

党宏¹,周娟²,应作霖²,施伟民³,李莉¹

1. 上海交通大学医学院附属上海第一人民医院
2.
3. 上海交通大学附属上海第一人民医院

收稿日期:2010-03-15 修回日期:2010-05-07 发布日期:2010-09-10
通讯作者: 李莉 E-mail:annylish@hotmail.com
基金资助:
FcεRIα基因、mRNA和蛋白表达改变与过敏性疾病相关性分析及检测方法建立

Polymorphisms of the high-affinity receptor for IgE alpha-chain （FcεRIα） gene in patients with atopic dermatitis

Received:2010-03-15 Revised:2010-05-07 Published:2010-09-10

摘要/Abstract

摘要：

目的探讨FcεRIα基因序列研究基因多态性与特应性皮炎的相关性。方法提取特应性皮炎患者（97例）和正常人（283例）基因组DNA并进行扩增，通过高温连接酶检测法（PCR-LDR）测定FcεRIα基因远端启动子的序列，检测其SNP位点，并用SPSS软件进行统计处理。结果 ①FcεRIα基因启动子区rs61828219位点存在G > T多态性，rs12135235位点为TT纯合子，rs36233780位点为AA纯合子。②特应性皮炎患者组和正常人对照组间的rs61828219位点基因突变频率分别为1.04％和2.17％，两组间差异无统计学意义（P > 0.05）。结论汉族人FcεRIα基因rs61828219位点存在G > T基因多态性，与特应性皮炎相关性不显著，s12135235位点和rs36233780位点不存在多态性。

关键词: 特异性皮炎, FcεRI基因, 单核苷酸多态性

Abstract:

Objective To assess the relationship between single nucleotide polymorphisms of FcεRIα gene and atopic dermatitis． Methods Genomic DNA samples were extracted from peripheral blood of 97 patients with atopic dermatitis and 283 normal human controls. The polymorphism at the distal promoter region of FcεRIα gene was determined by PCR-ligase detection reaction assay followed by gene sequencing. Results A G/T polymorphism was observed at position rs61828219 in the promoter region of FcεRIα gene, while all the tested individuals were homozygous for T/T at position rs12135235 and A/A at position rs36233780 in the promoter region of FcεRIα gene. The mutation frequency at position rs61828219 was 1.04% and 2.17% in patients with AD and normal human controls, respectively （both P > 0.05）. Conclusions In the Chinese Han population, there is a G/T polymorphism at position rs61828219 in FcεRIα gene promoter region, which is unlikely related to the development of AD; however, no polymorphism is detected at position rs12135235 or rs36233780.

Key words: Atopic Dermatitis, FcεRI Gene, Single Nucleotide Polymorphism

党宏周娟应作霖施伟民李莉. 特应性皮炎患者IgE受体FcεRIα基因多态性研究[J]. 中华皮肤科杂志, 2010,43(9):626-628. doi:

参考文献

4 参考文献： [1] Cookson W. The immunogenetics of asthma and eczema: a new focus on the epithelium[J]. Nat Rev Immunol 2004, 4:978-988. [2] Esparza-Gordillo J, Weidinger S, Folster-Holst R, et al. A common variant on chromosome 11q13 is associated with atopic dermatitis[J]. Nat Genet 2009, 5:596-601. [3] Bradley M ,Soderhall C ,LuthmanH ,et al. Susceptibility loci for atopic dermatitis on chromosomes 3，13，15，17 and 18 in a Swedish population [J]. Hum Mol Genet, 2002,11:1539-1548. [4] HaagerupA , BjerkeT ,Schiotz PO, et al. Atopic dermatitis-a total genome-scan for susceptibility genes [J]. Acta Derm Venereol,2004,84:346-352 [5] Kraft S, Kinet JP. New developments in FcepsilonRI regulation, function and inhibition[J]. Nat Rev Immunol, 2007, 7: 365–378. [6] Green SL, Gaillard MC, Song E, et al. A.Polymorphisms of the beta chain of the high-affinity immunoglobulinE receptor (FcεRI-β) in South African black and white asthmatic and nonasthmatic individuals[J]. Am. J.Respir. Crit. Care Med. 1998;158:1487-1492. [7]Donald W，MacGlashan Jr．Endocytosis，recycling，and degradation of unoccupied FcεRI in human basophils [J]．Leukoc Biol，2007，82：1003—1010． [8] Dombrowicz, DV, Flamand, KK, Brigman, BH,et al. Abolition of anaphylaxis by targeted disruption of the high affinity immunoglobulin E receptor α chain gene[J]. Cell ,1993, 75: 969–976. [9]. Hasegawa M, Nishiyama C, Nishiyama M et al. Regulation of the human FcεRI α-chain distal promoter[J]. J. Immunol.2003;170:3732-3738. [10].Hasegawa M, Nishiyama C, Nishiyama M, et al. A novel-66T/C polymorphism in FcεRI α-chain promoter affecting the transcription activity: possible relationship to allergic diseases[J]. J Immunol.2003;171:1927–33. [11].Bae JS, Kim SH, Ye YM, et al. SigniWcant association of FcεRIα promoter polymorphisms with aspirinintolerant chronic urticaria[J]. J Allergy Clin Immunol. 2007;119:449–56 [12]. Potaczek DP, Sanak M, Nizankowska E, et al. Novel exon 2A of the high-a Ynity receptor for the IgE α-chain gene (FCER1A) and autoimmunity in patients with asthma or urticaria[J]. Ann Allergy Asthma Immunol.2006;97:711–2. [13]. Potaczek DP, Sanak M, Mastalerz L, et al. Genetic polymorphisms of the novel FCER1A gene region: relation to total serum IgE levels[J]. Ann Allergy Asthma Immunol. 2007;98:500–1. [14]. Potaczek DP, Nishiyama C, Sanak M, et al. FCER1A gene exon 1A polymorphisms in Japanese and Polish subjects—a comparative analysis of haplotypes[J]. Allergy. 2008;63:626–7.