HLA-DRB1和HLA-DQB1基因多态性与天疱疮的相关性

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

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。

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.