全身性紅斑狼瘡PD1和PD1-ligand基因多型性的研究

The PD1 and PD1-ligand genes Polymorphisms in Systemic Lupus Erythematosus

王淑珍(Shu-Chen Wang)

指導教授 ： 顏正賢

高雄醫學大學/醫學院/醫學研究所/碩士(2005年)

摘要

本研究主要目的是想要瞭解programmed cell death 1 (PDCD1 or PD1), programmed cell death ligand 1 (PDL1), and programmed cell death ligand 2 (PDL2)這些基因的多形性在全身性紅斑狼瘡疾病的致病角色。本研究共分析了100位全身性紅斑狼瘡(SLE)病人及100位健康人的樣本，利用聚合酶連鎖反應(PCR)及限制片段長度多形性反應(RFLP)以及核酸定序分析的方法來偵測PD1、PDL1、PDL2這些基因的多形性。結果在本研究中SLE病人PD1 7209C/T基因形分佈和健康人有顯著不同，在SLE病人7209T其對偶基因形與表現形在健康人的對照組有明顯減少，在SLE病人其PD1-7209T是單獨出現的，並沒有因HLA -DR2之基因形的出現而有顯著影響。PDL1基因之多形性在本次研究中並未發現，PDL2 +47103的基因多形性在SLE病人和健康人有顯著不同，PDL2 +47103C對偶基因形與表現形在健康人有較低值，相對地，在SLE病人PDL2 +47103T對偶基因形與表現形是有較高值表現。在SLE病人其PDL2+47103T是單獨出現的，並沒有因HLA -DR2之基因形的出現而有顯著影響。結論：對於全身性紅斑狼瘡而言 PD1 +7209T 和 PDL2 +47103C是具有保護作用的對偶基因形，相對地，PDL2 +47103T即是一個加速致病的因素，具有PD1+7209T基因形表現的病人而言，其較不會產生自體抗體(Anti-Ro/La)。

關鍵字

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並列摘要

Objectives. To investigate the role of programmed cell death 1 (PDCD1 or PD1), programmed cell death ligand 1 (PDL1), and programmed cell death ligand 2 (PDL2) in the role of pathogenesis of systemic lupus erythematosus (SLE), the polymorphisms of these genes were studied. Methods. One-hundred patients with SLE and one-hundred healthy controls were enrolled in this study. The polymorphisms of PD1, PDL1, and PDL2 were determined by the method of polymerase chain reaction/ restriction fragment length polymorphism and sequencing analysis. Results. The genotypes distributions of PD1 7209C/T in SLE patients were significantly different from those in controls. The allele and allele carriage frequencies of PD1 +7209T were significantly decreased in SLE patients compared with controls. The association of PD1+7209T with SLE patients was independent of HLA-DR2. The PDL1 polymorphisms could not be found in this study. This study also showed that the genotype distributions of PDL2 +47103 polymorphisms were significantly different between SLE patients and controls. The allele and allele carriage frequencies of PDL2 +47103C were significantly lower in SLE patients than in controls. In contrast, the allele and allele carriage frequencies of PDL2 +47103T were significantly increased in SLE patients in comparison with controls. The association between PDL2+47103T and SLE patients was also independent of HLA-DR2. Conclusion. The PD1 +7209T and PDL2 +47103C may prevent from the development of SLE. In contrast, PDL2 +47103T may be a precipitating factor. The PD1 +7209T tends to prevent from the occurrence of anti-Ro/La antibodies.

並列關鍵字

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參考文獻

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