Takeuchi F, Kuwata S, Nakano K, Nabeta H, Hong G H, Shibata Y, Tanimoto K, Ito K
Department of Internal Medicine and Physical Therapy, Faculty of Medicine, University of Tokyo, Japan.
Clin Exp Rheumatol. 1996 Sep-Oct;14(5):513-21.
The contribution of polymorphism of transporter associated with antigen processing 1 and 2 (TAP1 and 2) alleles to the pathogenesis of Japanese SSc was studied.
TAP1 and TAP2 typing was carried out in 55 Japanese SSc patients and 95 normal Japanese subjects by the PCR-RFLP (restriction fragment length polymorphism) method. HLA-DR typing and HLA DRB1*15, *16 and *08 genotyping were carried out by the PCR and the PCR-SSCP (single-stranded DNA conformation polymorphism) methods, respectively.
The frequencies of the TAP1A and TAP2A alleles were significantly increased in SSc with diffuse scleroderma (100%, p < 0.005; 80.0%, p < 0.001, respectively) and in SSc with antitopoisomerase 1 antibody (a-Scl-70), (93.2%, p = not significant (NS); 63.6%, p < 0.05). In contrast, the TAP1B allele was significantly decreased in diffuse scleroderma (0%, p < 0.005) and SSc with a-Scl-70 (4.5%, p < 0.05), and TAP2B was decreased in diffuse scleroderma (12.5%, p < 0.01).
Association analysis among TAP1A, TAP2A and DRB11502 indicated that increases in TAP1A and TAP2A were not primary, but were reflective of an increase in HLA DRB11502 in Japanese SSc patients with diffuse scleroderma and SSc with a-Scl-70.
研究抗原加工相关转运体1和2（TAP1和TAP2）等位基因多态性对日本系统性硬化症发病机制的影响。
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对55例日本系统性硬化症患者和95例正常日本受试者进行TAP1和TAP2分型。分别采用聚合酶链反应和聚合酶链反应-单链DNA构象多态性（PCR-SSCP）方法进行HLA-DR分型以及HLA DRB1*15、16和08基因分型。
TAP1A和TAP2A等位基因频率在弥漫性硬皮病的系统性硬化症患者中显著升高（分别为100%，p<0.005；80.0%，p<0.001）以及在抗拓扑异构酶1抗体（抗Scl-70）阳性的系统性硬化症患者中显著升高（93.2%，p=无显著性差异（NS）；63.6%，p<0.05）。相比之下，TAP1B等位基因在弥漫性硬皮病（0%，p<0.005）和抗Scl-70阳性的系统性硬化症患者中显著降低（4.5%，p<0.05），而TAP2B在弥漫性硬皮病中降低（12.5%，p<0.01）。
TAP1A、TAP2A与DRB11502之间的关联分析表明，TAP1A和TAP2A的增加并非原发性的，而是反映了弥漫性硬皮病和抗Scl-70阳性的日本系统性硬化症患者中HLA DRB11502的增加。
