- 學位論文
基因單核苷酸多型性與炎症疾病之探討
Association between single nucleotide polymorphism of genes and inflammatory disease
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摘要
炎症病包含許多醫學疾病，這裡是針對兩種自體免疫疾病(橋本氏甲狀腺炎和風濕性關節炎)與氣喘病做研究。橋本氏甲狀腺炎(Hashimoto's thyroiditis)屬於自體免疫疾病，病患體內會產生抗甲狀腺抗體來破壞自己的甲狀腺組織而造成甲狀腺功能低下；然而橋本氏甲狀腺炎的病因目前尚不清楚，但遺傳因子是被認為是一個很重要的角色;其中，維他命D相關的內分泌系統被研究報告指出能進行免疫調控功能，在這裡我們研究維他命D受體FokI單核苷酸多型性是否與橋本氏甲狀腺炎有關聯，結果指出是有相關性。另外，氣喘(Asthma)是一種慢性呼吸道疾病，發作時可導致病患呼吸困難，嚴重時可能導致窒息；氣喘病被認為是多因子引起的，其發病原因最主要是遺傳因子和環境交互作用所引起的，現今我們的研究結果顯示interleukin-18單核苷酸多型性(105A/C)與氣喘病有關聯性。此外，類風濕性關節炎(Rheumatoid arthritis)是一種廣泛而難以治癒的慢性疾病，患者病況輕微時僅局部關節會僵硬、疼痛，嚴重時則會引起全身的關節腫脹、疼痛及損壞，甚至造成殘障；而interleukin-2和interleukin-18被認為會影響類風濕性關節炎的發生，我們的研究結果顯示interleukin-18單核苷酸多型性(105A/C)與類風濕性關節炎有關聯性。
並列摘要
Inflammatory diseases include a variety of medical conditions. Here, two autoimmune diseases (Hashimoto's thyroiditis, HT and rheumatoid arthritis, RA), and asthma will be our focus. The etiology of the autoimmune thyroid disease, Hashimoto’s thyroiditis (HT) is unclear. However, genetic susceptibility is thought to play a critical role. Vitamin D receptor (VDR)-related endocrine system has been demonstrated to be able to carry out modulation of the immune response. Here, we investigated whether single nucleotide polymorphisms (SNPs) of VDR are associated with HT patients. The results revealed a significant difference between HT patients and normal controls in VDR SNP and a statistic correlation between VDR-FokI polymorphisms and HT formation. As other allergic diseases, asthma also results from multiple conditions. Asthmatic beginning and severity are mediated by both environmental and genetic factors. Here, we investigated whether interleukin(IL)-18 single nucleotide polymorphisms (SNPs) are involved in Chinese asthma patients in Taiwan. The results revealed a significant difference between asthma patients and normal controls in IL-18 SNP and a statistic correlation between IL-18 polymorphisms (105A/C) and asthma formation. Interleukin(IL)-2 is an important growth and differentiation factor for cells of the immune system. IL-18 is a dramatic cytokine involved in both, T-helper type 1 (Th1) and T-helper type 2 (Th2)differentiations. We investigated whether polymorphisms of IL-2 and IL-18 genes are associated with Rheumatoid Arthritis (RA). The results of this study provide genetic evidence that IL-18-105A/C polymorphism may play an effective role in RA.
參考文獻
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