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。我们开始与韩国首尔大学合作研究韩国PSS中的TAP基因。在本研究阶段，研究的目的是建立协同工作的基本研究条件。为此，我们检查了日本PSS建立的研究方法，并提出了研究信息，韩国研究人员。应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对92例日本PSS患者和95例正常人进行了TAP 1和TAP 2基因分型。分别采用PCR法和PCR-SSCP法进行HLA-DR分型和HLA-DRB 1 **15、**16、**08基因分型，并建立韩日通用数据库。在伴有弥漫性硬皮病的PSS中，TAP 1A和TAP 2A等位基因频率显著增加（分别为100%，p<0.005 ; 80.0%，p<0.001）。在有抗拓扑异构酶I抗体（a-Scl-70）的PSS中，TAP 1A和TAP 2A等位基因也增加（93.2%，p=NS ; 63.6%，p<0.05）。相反，TAP 1B 关于我们 弥漫性硬皮病（0%，p<0.005）和a-SCL-70的PSS（4.5%，p<0.05）的e显著降低。TAP 2B在弥漫性硬皮病中也降低（12.5%，p<0.01）。DR和DRB_1的检测结果显示，弥漫性硬皮病和a-Scl-70阳性PSS患者的DRB_1 ~（**）1502显著增加，与我们以前的研究结果一致。TAP 1A、TAP 2A和DRB 1 **1502之间的关联分析表明，TAP 1A和TAP 2A的升高不是原发性的，而是日本PSS伴弥漫性硬皮病和PSS伴a-Scl-70患者HLADRB 1 **1502升高的反映。已经收集了包括韩国正常人在内的韩国样本，并在首尔大学对几个样本进行了初步检测。此外，还使用上述通用方案研究了临床特征。韩国PSS的TAP和DR基因将在下一个研究期后阐明。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