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

遗传因素对PSS的作用尚不清楚。我们开始与韩国首尔大学共同研究韩国PSS中的TAP基因。在这一研究阶段，研究的目的是为合作研究奠定基础条件。为此，我们考察了日本的PSS以建立研究方法，并将研究信息呈现给韩国研究者。应用聚合酶链式反应-限制性片段长度多态性方法对92例日本PSS患者和95例正常人进行TAP1和TAP2基因分型。分别采用聚合酶链式反应(PCR)和聚合酶链式反应-单链构象多态性分析(PCR-SSCP)方法进行了人类白细胞抗原-DR基因分型和DRB1**15、**16和**08基因分型，建立了韩日通用数据库。在弥漫性硬皮病患者中，TAP1a和TAP2a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，TAP1a和TAP2a等位基因也增加(93.2%，p=NS；63.6%，p&lt；0.05)。相反，TAP1B等位…弥漫性硬皮病(0%，P<0.005)和α-SCL-70阳性的PSS(4.5%，P<0.05)的E降低更明显。弥漫性硬皮病患者TAP2B也降低(12.5%，p&lt；0.01)。DR和DRB1检测显示DRB1**1502在弥漫性硬皮病和a-scl-70阳性PSS中显著增加，与我们先前的研究一样。TAP1a、TAP2a和DRB1**1502的关联分析表明，TAP1a和TAP2a的增加不是主要的，而是反映了日本弥漫性硬皮病PSS和a-scl-70的PSS中HLADRB1**1502的增加。然而，这一结论与高加索人不一致，因此来自朝鲜语的PSS信息对于阐明PSS的遗传发病机制是非常重要的。本研究已经收集了包括朝鲜族正常人在内的韩国人样本，并在首尔大学进行了初步测试。此外，还使用上述通用方案对临床特征进行了研究。韩国PSS的TAP和DR基因将在下一个研究期后得到澄清。较少

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