TAP2運輸基因的多型性與台灣的紅斑性狼瘡族群之間的關連性

Polymorphisms of the TAP2 genes in Chinese patients with systemic lupus erythematosus in Taiwan

這篇研究的目的在於探討抗原處理運輸基因（transporter associated with antigen processing） （TAP2）的對偶基因之多型性與台灣族群中的紅斑性狼瘡病患之間的相關性。我們收集了84個紅斑性狼瘡病患以及105個健康者做對照組。基因的多型性是以聚合反應（PCR）為基礎的限制分析來取得的。紅斑性狼瘡與TAP2之間的關連性分析結果發現TAP2-1，TAP2-2，TAP2-3的基因多型性與紅斑性狼瘡無明顯相關。然而，我們發現TAP2-1的G對偶基因相對於A對偶基因，明顯與紅斑性狼瘡的皮膚表現有顯著的相關性（蝴蝶斑 χ2=6.90，p=0.001，盤狀紅斑 χ2=5.10，p=0.02，光敏感性 χ2=5.80，p=0.02）。同樣的，TAP2-1的G對偶基因與抗核抗體的陽性率也有顯著的相關性（χ2=9.35，p=0.002）。總而言之，由我們的研究可知，TAP2-1，TAP2-2，TAP2-3的基因多型性不能成為紅斑性狼瘡的標記；但TAP2-1的G對偶基因與紅斑性狼瘡的皮膚表現以及抗核抗體的濃度有明顯的相關性。

Objective: The purpose of this study was to determine how polymorphisms of transporter associated with antigen processing 2 (TAP2) alleles contribute to the pathogenesis of systemic lupus erythematosus (SLE) in Taiwan. Methods: We enrolled 84 patients with SLE and 105 healthy controls. The polymorphisms were detected by polymerase chain reaction (PCR)-based restriction analysis. The relationships between SLE and TAP2 polymorphisms were evaluated. Results: No significant differences were found between normal subjects and SLE in TAP2-1 (p=0.28), TAP2-2 (p=0.55) and TAP2-3 (p=0.52) polymorphisms. However, the G allele of TAP2-1 was significantly more common than the A allele in cutaneous manifestations of SLE patients (malar rash, χ2=6.90 , p=0.001; discoid rash, χ2=5.10, p=0.02; and photosensitivity, χ2=5.80, p=0.02). Similarly, The G allele of TAP2-1 had a statistic significance than A allele in positive ANA of SLE patients (χ2=9.35, p=0.002). Conclusion: Our data indicate that TAP2-1, TAP2-2 and TAP2-3 polymorphisms are not candidate genetic markers of SLE. However, the G allele of TAP2-1 may serve as a marker for cutaneous manifestations (malar rash, discoid rash and photosensitivity) and positive ANA in SLE patients.