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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。
Objective: To investigate the association between primary s syndrome (pSS) and HLA-DQ alleles in Shanxi Han population and to explore the pathogenesis of pSS at the gene level. Methods: HLA-DQA1 and HLA-DQB1 genes were genotyped by polymerase chain reaction-sequence specific primers (PCR-SSP) in patients with pSS and healthy controls. Chi-square test and Fisher’s exact test were used to compare the two groups Differences in gene frequency. Results: (1) The frequency of HLA-DQA1 * 0501 gene in 100 Han healthy people and pSS patients in Shanxi was 12.0% and 22.0% respectively. The frequency of HLA-DQA1 * 0501 gene in pSS patients was significantly higher than that in healthy controls (χ2 = 7.087, P <0.05, RR = 2.068). (2) The allele frequency of HLA-DQA1 * 0301/2 in pSS patients was 13.0%, which was significantly lower than that in healthy controls (χ2 = 8.681, P <0.05, RR = 0.460). (3) The frequency of HLA-DQB1 * 0201 gene was 28.5% in pSS patients, which was significantly higher than that in healthy people (χ2 = 5.563, P <0.05, RR = 1.756). Conclusion: The alleles of HLA-DQA1 * 0501 and HLA-DQB1 * 0201 may be the susceptible genes of pSS in Shanxi Han, while HLA-DQA1 * 0301/2 alleles may be the protective genes.