上海交通大学学报（医学版）

›› 2011, Vol. 31 ›› Issue (7): 948-.doi: 10.3969/j.issn.1674-8115.2011.07.017

• 论著（临床研究） • 上一篇    下一篇

HLA-DRB1和HLA-DQB1基因多态性与天疱疮的相关性

吴桂菊1, 张 勇2, 朱海琴1, 王 颖2, 潘 萌1   

  1. 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
  • 出版日期:2011-07-28 发布日期:2011-07-27
  • 通讯作者: 潘 萌, 电子信箱: panmeng@medmail.com.cn。
  • 作者简介:吴桂菊(1984—), 女, 硕士生；电子信箱: yatoucao@126.com。
  • 基金资助:

    国家自然科学基金(30771932)和上海市科委基金（10JC14106007）

Association of HLA-DRB1 and HLA-DQB1 gene polymorphisms with pemphigus

WU Gui-ju1, ZHANG Yong2, ZHU Hai-qin1, WANG Ying2, PAN Meng1   

  1. 1.Department of Dermatology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200025, China；2.Shanghai Institute of Immunology, Shanghai Jiaotong University School of Medicine, Shanghai 200025, China
  • Online:2011-07-28 Published:2011-07-27
  • Supported by:

    National Natural Science Foundation of China, 30771932；Shanghai Science and Technology Committee Foundation, 10JC14106007

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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

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 (OR) of allele frequencies were used to evaluate the association of gene with disease. Results A total of 13 HLA-DRB1 alleles and 5 HLA-DQB1 alleles were detected in case group and control group. The frequencies of HLA-DRB1*14 allele and HLA-DQB1*05 allele in case group were significantly higher than those in control group (17.24% vs 1.69%, P=0.000, Pc<0.05, OR=12.150; 18.97% vs 6.74%, P=0.001，Pc<0.05，OR=3.238). The frequency of HLA-DQB1*06 allele in case group was significantly lower than that in control group （15.52% vs 30.90%, P=0.003, Pc<0.05, OR=0.411）. Conclusion HLA-DRB1*14 and HLA-DQB1*05 may be predisposing genes, while HLA-DQB1*06 may be protective gene of pemphigus in Shanghai.

Key words: human leucocyte antigen-DRB1, human leucocyte antigen-DQB1, allele, pemphigus, predisposing gene, protective gene