广西壮族、汉族系统性硬化病与HLA-DQA1、DQB1等位基因相关性研究

Associations of HLA-DQA1 and -DQB1 alleles with systemic sclerosis in Zhuang and Han nationalities in Guangxi Zhuang Autonomous Region

目的 探讨广西壮族、汉族系统性硬化病（SSC）与HLA-DQA1、-DQB1等位基因的相关性.方法 用PCR-序列特异性引物（PCR-SSP）方法,对壮、汉族Sse患者各50例和壮、汉族健康人各100例的HLA-DQA1、-DQB1基因进行研究.结果 与正常人对照组相比,壮族SSc患者组中HLA-DQA1＊0401、-DQB1＊0501、-DQB1＊0601基因频率显著升高（分别为RR：4.06,χ2=15.41,Pc〈0.01;RR=4.47,χ2=10.65,Pc〈0.01和RR=3.47,χ2=10.06,Pc〈0.01）,汉族SSc患者组中HLA-DQA1＊0401、-DQA1＊0601、-DQB1＊0601基因频率显著升高（分别为RR=9.33,χ2=8.37,Pc〈0.05;RR=8.071,χ2=20.13,Pc〈0.01和RR=3.76,χ2=10.76,Pc〈0.01）.壮、汉族SSc患者组中HLA-DQA1＊0201基因频率均显著降低（χ2=13.58,Pc〈0.01和χ2=12.21,Pc〈0.01）.结论 HLA-DQA1＊0401、-DQB1＊0601可能是广西壮族、汉族SSc患者的易感基因,HLA-DQB1＊0501可能是广西壮族SSc患者的易感基因,HLA-DQA1＊0601可能是广西汉族SSc患者的易感基因.

Objective To explore the potential associations of HLA-DQA1 and DQB1 alleles with systemic scleroderma （SSc） in Zhuang and Han nationalities in Guangxi Zhuang Autonomous Region. Methods Genomic DNA was extracted from the peripheral blood of SSc patients of Zhuang （n=50） and Han （n=50） nationality,normal controls of Zhuang （n=100） and Han （n=100） nationality in Guangxi Zhuang Autonomous Region.PCR with sequence-specific primers （PCR-SSP） was used to detect HLA-DQA1 and -DQB1 alleles in these subjects. Results There was a significant increase in the frequency of HLA-DQA1＊0401, -DQBl＊0501 and -DQB1＊0601 alleles in the patients of Zhuang nationalty（RR=4.056,χ2=15.407,PC=0.001;RR=4.472,χ2=10.653,Pc=0.004;RR=3.473,χ2=10.06,Pc=0.008）compared with normal controls of Zhuang nationality,and in the frequency of HLA-DQA1＊0401,DQA1＊0601 and DQB1＊0601 alhles in patients of Han nationality （RR=9.333,χ2=8.371,Pc=0.036;RR=8.071,χ2=20.130,Pc=0.000;RR=3.764,χ2=10.755,Pc=0.004）compared with normal control of Han nationality.However,the frequency of HLA-DQA1＊0201 allele was statistically lower in the patients of Zhuang and Han nationality than in the controls of corresponding nafionality （χ2=13.583,Pc=0.002;χ2=12.209,Pc=0.004）.Conclusions HLA-DQA1＊0401 and-DQB1＊0601may be susceptible genes for SSc in Zhuang and Han nationalities,HLA-DQB1＊0501 for Sse in Zhuang nationality,and HLA-DQAl＊060l for SSc in Han nationality in Guangxi Zhuang Autonomous Region.