山西汉族原发性干燥综合征与HLA-DQ基因多态性相关性的研究

The study on correlativity between HLA-DQ gene polymorphism and primary Sjgren's syndrome of the Han nationality in Shanxi province

目的:探讨山西汉族人群原发性干燥综合征(pSS)与HLA-DQ等位基因的相关性,从基因水平上探索pSS的发病机制。方法:应用聚合酶链反应-序列特异性引物(PCR-SSP)法对pSS患者与健康对照进行HLA-DQA1、HLA-DQB1基因的分型;采用χ2检验和Fisher’s精确检验比较两组各等位基因频率的差异。结果:(1)在100例山西汉族健康人及pSS患者中,HLA-DQA1*0501基因频率分别为12.0%和22.0%。与健康对照相比较,pSS患者中HLA-DQA1*0501基因频率显著增高(χ2=7.087,P<0.05,RR=2.068)。(2)pSS患者HLA-DQA1*0301/2等位基因频率为13.0%,显著低于健康对照组的24.5%(χ2=8.681,P<0.05,RR=0.460)。(3)pSS患者中HLA-DQB1*0201基因频率为28.5%,显著高于健康人的18.5%(χ2=5.563,P<0.05,RR=1.756)。结论:HLA-DQA1*0501和HLA-DQB1*0201等位基因可能是山西汉族pSS的易感基因,而HLA-DQA1*0301/2等位基因可能是其保护基因。

AIM： To explore the correlativity between HLA-DQ allele and primary Sjogren＇ s syndrome （pSS） of the Han nationality in Shanxi province and to understand the pathogenesis of pSS at the gene level. METHODS： Polymerase chain reaction sequence specific primers （PCR- SSP） technique was used to determine the alleles of HLA- DQA1 and HLA-DQB] of pSS patients and healthy populations, and the difference in their HLA-DQA1 and HLA-DQB1 allelic frequencies were analyzed by using chisquare test and Fisher＇s exact test. RESULTS： （1） The gene frequency of HLA-DQA1 ＊ 0501 in pSS patients was significantly higher than that in healthy controls（22.0% vs 12.0%, χ^2 = 7.087, P 〈 0.05, RR = 2.068）. （2） The gene frequency of HLA-DQA1 ＊ 030]/2 in pSS patients was significantly lower than that in controls（ 13.0% vs 24.5%, χ^2 = 8.681, P 〈 0.05, RR=0.460）. （3） The gene frequency of HLA-DQB1 ＊ 0201 in pSS patients was significantly higher than that in controls （28.5% vs ]8.5%, χ^2 =5.563, P〈0.05, RR=1.756）. CONCLUSION： In Han nationality of Shanxi province, HLA- DQA] ＊ 0501 and HLA-DQB1 ＊ 0201 alleles probably are susceptible genes of pSS, while HLA-DQA1 ＊ 0301/2 allele probably is a protective gene of pSS.