HLA-B27亚型与强直性脊柱炎相关性分析

Association Analysis on Heterogenity of HLA-B27 and Ankylosing Spondy

目的了解苏州地区汉族人群的正常人和强直性脊柱炎(AS)患者的HLA-B27亚型基因分布的特点,分析HLA-B27亚型与AS的相关性。方法对正常人HLA-B27基因阳性组(简称正常组)50人、AS患者HLA-B27基因阳性组(简称AS组)160例采用特异性引物聚合酶链反应技术(PCR-SSP)进行了HLA-B27亚型基因检测。结果在正常组和AS组中,共检测出7种亚型,AS组和正常组都以HLA-B*2704亚型和HLA-B*2705亚型为主,两亚型合占分别为96.2%和92%。HLA-B*2704亚型阳性率AS组明显高于正常组,HLA-B*2705亚型阳性率正常组明显高于AS组(均P<0.01)。HLA-B*2707亚型和HLA-B*2711亚型在两组都检测到,但无显著性差异(P>0.05)。HLA-B*2702亚型只在AS组测到1例,而HLA-B*2706亚型和HLA-B*2703亚型只在正常组分别测到1例。结论HLA-B*2704和HLA-B*2705是苏州地区汉族人群AS的易感基因,而HLA-B*2704与AS呈强相关。

Objective To investigate the genotypes distribution of HLA-B27 gene in healthy individuals and patients with ankylosing spondy （AS） in Chinese Han nationality of Suzhou region. Association analysis on heterogenity of HLA-B27 and AS was made, too. Methods Typing of the HLA- B27 genotypes in 50 cases of healthy individuals with HLA-B27 gene positive and 160 cases of AS patients was performed by polymerase chain reaction amplification with sequence-specific primers （PCR- SSP）. Results Seven HLA-B27 genotypes were determined in healthy individuals and AS patients. HLA-B ＊ 2704 and HLA-B ＊ 2705 were the two high frequency genotypes, with a genotype frequency of 96.2 % and 92 %. The frequencies distributions of the two genotypes were highly diffenert between the two groups （χ^2 = 10.29, P 〈 0.01,χ^2 = 7. 655, P 〈 0.01）. Compared with the healthy controls, the AS patients had high frequency of HLA-B ＊ 2704 and lower frequency of HLA-B ＊ 2705. There was no genetic discrepancy in HLA-B27 genotypes between the controls and the AS patients. HLA-B ＊ 2702, HLA-B ＊ 2706 and HLA-B ＊ 2703 were detected only in one case in the AS patients and in the controls respectively. Conclusion HLA-B ＊ 2704 and HLA-B ＊ 2705 are the genes susceptive to AS in Chinese Han nationality of Suzhou region. HLA-B ＊ 2704 genotype is strongly associatied with AS.