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HLA-DRB1和HLA-DQB1基因多态性与天疱疮的相关性
引用本文:吴桂菊,张勇,朱海琴,王颖,潘萌. HLA-DRB1和HLA-DQB1基因多态性与天疱疮的相关性[J]. 上海交通大学学报(医学版), 2011, 31(7): 948-951. DOI: 10.3969/j.issn.1674-8115.2011.07.017
作者姓名:吴桂菊  张勇  朱海琴  王颖  潘萌
作者单位:1. 上海交通大学医学院附属瑞金医院皮肤科,上海,200025
2. 上海交通大学医学院上海免疫学研究所,上海,200025
基金项目:国家自然科学基金(30771932); 上海市科委基金(10JC14106007)~~
摘    要:目的探讨人白细胞抗原(HLA)-DRB1和HLA-DQB1等位基因多态性与天疱疮的遗传相关性。方法以上海地区的58例天疱疮患者(病例组)和89名正常对照者(对照组)作为研究对象。采用聚合酶链反应-序列特异性引物分型技术(PCR-SSP)对两组HLA-DRB1和HLA-DQB1等位基因进行分型,直接计数法计算等位基因频率并进行组间比较,以等位基因频率的比值比(OR)评价基因与疾病的关联性。结果病例组和对照组共检测到13种HLA-DRB1等位基因和5种HLA-DQB1等位基因。统计学分析结果表明:病例组HLA-DRB1*14和HLA-DQB1*05等位基因频率分别为17.24%和18.97%,显著高于对照组的1.69%(P=0.000,P值的校正值Pc<0.05,OR=12.150)和6.74%(P=0.001,Pc<0.05,OR=3.238);病例组HLA-DQB1*06等位基因频率为15.52%,显著低于对照组的30.90%(P=0.003,Pc<0.05,OR=0.411)。结论 HLA-DRB1*14和HLA-DQB1*05可能是上海地区天疱疮患者的易感基因,而HLA-DQB1*06则可能是保护基因。

关 键 词:白细胞抗原-DRB1  白细胞抗原-DQB1  等位基因  天疱疮  易感基因  保护基因

Association of HLA-DRB1 and HLA-DQB1 gene polymorphisms with pemphigus
WU Gui-ju,ZHANG Yong,ZHU Hai-qin,WANG Ying,PAN Meng. Association of HLA-DRB1 and HLA-DQB1 gene polymorphisms with pemphigus[J]. Journal of Shanghai Jiaotong University:Medical Science, 2011, 31(7): 948-951. DOI: 10.3969/j.issn.1674-8115.2011.07.017
Authors:WU Gui-ju  ZHANG Yong  ZHU Hai-qin  WANG Ying  PAN Meng
Affiliation:WU Gui-ju1,ZHANG Yong2,ZHU Hai-qin1,WANG Ying2,PAN Meng1(1.Department of Dermatology,Ruijin Hospital,Shanghai Jiaotong University School of Medicine,Shanghai200025,China,2.Shanghai Institute of Immunology,China)
Abstract:Objective To explore the genetic association of human leucocyte antigen(HLA)-DRB1 and HLA-DQB1 allele polymorphisms with pemphigus. Methods Fifty-eight patients with pemphigus(case group) and 89 normal controls(control group) were selected in Shanghai as study objectives.HLA-DRB1 and HLA-DQB1 alleles in two groups were typed by polymerase chain reaction-sequence specific primers(PCR-SSP).Direct count method was adopted to calculate allele frequencies,and comparison was performed between groups.Odds ratios(O...
Keywords:human leucocyte antigen-DRB1  human leucocyte antigen-DQB1  allele  pemphigus  predisposing gene  protective gene  
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