Association of HLA-DR and TAP genes with PSS in Koreans.-the basic trial

遗传因素对PSS的影响尚不清楚。我们与韩国首尔大学共同研究了韩国PSS的TAP基因。在本研究期间，研究的目的是为协同工作建立基础研究条件。为此，我们研究了日本的PSS，建立了研究方法，并向韩国研究者展示了研究信息。采用PCR-RFLP方法对92例日本PSS患者和95例正常人进行TAP1和TAP2分型。采用PCR法和PCR- sscp法分别进行HLA- dr分型和HLA DRB1**15、**16、**08基因分型。为了协同工作，我们建立了韩文和日文的通用数据库。弥漫性硬皮病患者TAP1A和TAP2A等位基因频率显著升高（100%,p<0.005; 80.0%, p<0.001）。在抗异构酶I抗体（a-Scl-70）的PSS中，TAP1A和TAP2A等位基因也增加（93.2%,p=NS; 63.6%, p<0.05）。在弥漫性硬皮病（0%,p<0.005）和伴a-SCL-70的PSS （4.5%, p<0.05）中，TAP1B列列显著降低。弥漫性硬皮病患者TAP2B水平降低（12.5%,p<0.01）。DR和DRB1检测显示弥漫性硬皮病和a-Scl-70阳性PSS患者DRB1**1502显著升高，与我们前期研究一致。TAP1A、TAP2A和DRB1**1502之间的关联分析表明，TAP1A和TAP2A的升高不是原发的，而是反映了日本弥散性硬皮病PSS和a-Scl-70 PSS中HLA DRB1**1502升高。结论与白种人不一致，因此韩国人PSS的信息对阐明PSS的遗传发病机制具有重要意义。在这项研究中，已经收集了包括韩国normal在内的韩国样本，并在首尔大学对几个样本进行了初步测试。此外，临床特征也采用通用方案进行了研究，如上所述。韩国PSS的TAP和DR基因将在接下来的研究阶段得到明确。少

The contribution of genetic factors to PSS is still unclear. We started the co-work on TAP gene in Korean PSS with Seoul University in Korea. In this research period, the purpose of research is to establish the basical research conditions for co-work. For the purpose, we examined Japanese PSS to establish the research method and presented the research information to Korean researcher. TAP1 and TAP2 typing was carried out in 92 Japanese PSS patients and 95 normal subjects by PCR-RFLP method. HLA-DR typing and HLA DRB1**15, **16 and **08 genotyping were carried out by PCR method and PCR-SSCP method, respectively.For co-work, we established the universal database between Korean and Japanese. In PSS with diffuse scleroderma alleles frequencies of TAP1A and TAP2A were significantly increased (100%, p<0.005 ; 80.0%, p<0.001, respectively). In PSS with antitopisomerase I antibody (a-Scl-70) TAP1A and TAP2A alleles were also increased (93.2%, p=NS ; 63.6%, p<0.05). To the contrary, TAP1B allel … More e was significantly decreased in diffuse scleroderma (0%, p<0.005) and PSS with a-SCL-70 (4.5%, p<0.05). TAP2B was also decreased in diffuse scleroderma (12.5%, p<0.01). The examination of DR and DRB1 showed the significant increase in DRB1**1502 in diffuse scleroderma and a-Scl-70 positive PSS,as our previous study. Association analysis among TAP1A,TAP2A and DRB1**1502 indicated increases in TAP1A and TAP2A were not primary but reflect of an increase in HLA DRB1**1502 in Japanese PSS with diffuse scleroderma and PSS with a-Scl-70.The conclusion, however, was not concorded with Caucasians, so that informations from PSS in Korean were very important for clarify the genetic pathogenesis of PSS.In this study, Korean samples including Korean normal has been ccllected already, and several samples were tested, preliminary, in Seoul University. Additionally, clinical features has also been studied using universal protocol, above mentioned. TAP and DR genes of Korean PSS will be clarified after next research period. Less