Fok Ⅰ多态性与过敏性疾病  

Fok Ⅰ polymorphism in allergic diseases

作　　者：贾芳 孔旭辉 JIA Fang;KONG Xu-hui(Department of Otolaryngology,Nantong University Medical School,Nantong 226001,Jiangsu,China;Otolaryngology Head and Neck Surgery,Taizhou People’s Hospital of Nanjing Medical University,Taizhou 225300,Jiangsu,China)

机构地区：[1]南通大学医学院耳鼻咽喉学系,江苏南通226001 [2]南京医科大学附属泰州人民医院耳鼻咽喉头颈外科,江苏泰州225300

出　　处：《中华临床免疫和变态反应杂志》2023年第2期175-182,共8页Chinese Journal of Allergy & Clinical Immunology

基　　金：泰州市科技支撑计划(社会发展)非企立项项目(TS202217)。

摘　　要：维生素D是一组具有生物活性的脂溶性类固醇激素衍生物,其受体依赖性免疫效应对先天性免疫及适应性免疫均有调节作用。Fok Ⅰ(rs2228570)位于维生素D受体(VDR)基因外显子2翻译起始位点的第8个碱基对,它的胸腺嘧啶/胞嘧啶(T/C)转换导致最终合成的VDR蛋白只含有424个氨基酸。携带突变型基因的VDR基因相比野生型有着更高的转录活性,VDR基因Fok Ⅰ多态性能对靶基因的转录效率与免疫细胞的免疫效应产生影响。研究显示,Fok Ⅰ多态性与类风湿关节炎、乳腺癌、卵巢癌等多种疾病的发生、发展及预后相关,但与过敏性疾病相关的研究较少。本文对VDR基因Fok Ⅰ多态性与哮喘、特应性皮炎、过敏性鼻炎等过敏性疾病的最新研究进展进行综述。Vitamin D is a group of biologically active lipid-soluble steroid hormone derivatives,and it’s receptor-dependent immune effect can regulate both innate immunity and adaptive immunity.Fok Ⅰ(rs2228570)is located at the 8th base pair of the translation start site of exon 2 of the vitamin D receptor(VDR)gene.Its thymine cytosine(T/C)transition leads to the final synthesis of the VDR containing only 424 amino acids.The VDR gene carrying the mutant gene has a higher transcriptional activity than the wild type,and the polymorphism of VDR gene Fok Ⅰ affects the transcription efficiency of target genes and the immune effect of immune cells.Studies have shown that the polymorphism of Fok Ⅰ is related to the occurrence,development,and prognosis of various diseases such as rheumatoid arthritis,breast cancer,ovarian cancer,etc.But few studies are related to allergic diseases.This review summarizes the latest researching progress of VDR gene Fok Ⅰ polymorphism in allergic diseases such as asthma,atopic dermatitis,and allergic rhinitis.

关 键 词：维生素D 维生素D受体 过敏性疾病 FokⅠ(rs2228570) 基因多态性 

分 类 号：R593.1[医药卫生—内科学]