台灣地區青光眼與腫瘤壞死因子-α 及介白質-6 基因多型性之關聯性

Association of tumor necrosis factor-alpha and interleukin-6 gene polymorphisms with glaucoma in Taiwan

楊乙尹(Yi-Yin Yang)

指導教授 ： 蒙美津

亞洲大學/健康學院/保健營養生技學系碩士班/碩士(2009年)

摘要

基因多型性 (Polymorphism) 即為個體中基因序列發生改變，這些基因上的改變並不會造成危害，却與特定疾病的敏感性或藥物的反應有關聯性，如腫瘤壞死因子-α (Tumor necrosis factor-alpha; TNF-α) 的單核苷酸多型性 (Single nucleotide polymorphism; SNP) 與原發性隅角開放型青光眼 (Primary open angle glaucoma; POAG) 的致病機轉有關，亦為阿茲海默症(Alzheimer’s disease; AD) 的發病危險因子。青光眼與 AD 同為常見於老年族群不可逆之神經退化疾病，而且致病機制均與發炎有關。基於青光眼與 AD 的潛在相似性，本研究針對與 AD 發病有相關性的 TNF-α(-865)、(-859)、(-1032) 和IL-6 (-174)，來撿視這些基因之 SNP 與青光眼發病的可能相關性。
本研究之樣本來自於台中榮民總醫院眼科門診的病人，依其診斷狀況分為青光眼組及無青光眼之對照組，再利用聚合酶連鎖反應方法來分析樣本的 TNF-α (-865) C/A、(-859) G/A、(-1032) T/C 和 IL-6 (-174) C/G 之 SNP。
分析結果發現，TNF-α (-865)、(-859) 和 IL-6 (-174) 之 SNP 與POAG 和正常眼壓性青光眼並沒有相關性。然而，TNF-α (-1032) T 對偶基因 (TT 基因型) 在 POAG 組出現的頻率較對照組顯著性為高 (P=0.01009)。因此，TNF-α(-1032) 的基因多型性或可做為 POAG 潛在發病危險因子之篩選指標。

關鍵字

青光眼

並列摘要

Polymorphism is a DNA sequence variation. It usually does not cause overt debilitating diseases, but may contribute to disease susceptibility and influence drug responses. For example, the single nucleotide polymorphism (SNP) of tumor necrosis factor-α (TNF-α) has been shown to play a role in the pathogenesis of primary open-angle glaucoma (POAG) and increase the risk for developing Alzheimer’s disease (AD). Both glaucoma and AD are irreversible neurodegenerative diseases that usually affect the elderly group and inflammatory mechanisms are the relevant etiological factors for these two diseases. Based on the potential similarities between glaucoma and AD, the main purpose of the present study was to investigate the possible associations between the gene polymorphisms of AD related inflammatory cytokines, such as TNF-α (-865), TNF-α (-859), TNF-α(-1032) or IL-6 (-174), and the development of glaucoma.
Subjects were recruited from the outpatient clinic in the Department of Ophthalmology at the Veterans General Hospital, Taichung, Taiwan. All participants received comprehensive ophthalmologic examinations and then were divided into glaucoma (POAG and normal tension glaucoma; NTG) and normal control groups. Genotyping for polymorphisms in TNF-α (-865) C/A, TNF-α (-859) G/A, TNF-α (-1032) T/C, and IL-6 (-174) C/G genes were performed using polymerase chain reactions.
Results indicated that the distribution of the TNF-α(-1032) T allele (TT genotype) was greater in the POAG patients as compared to the control subjects (P=0.01009). However, no clear association was present between the gene polymorphisms in TNF-α (-865) C/A, TNF-α (-859) G/A, or IL-6 (-174) C/G and glaucoma. Therefore, it is concluded that the TNF-α (1032) T allele polymorphism might be a risk factor in the development of POAG.

並列關鍵字

glaucoma

參考文獻

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