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Association between single nucleotide polymorphism of genes and inflammatory disease
Dissertation

Association between single nucleotide polymorphism of genes and inflammatory disease

Wei-Yong Lin
Doctor of Philosophy (PHD), 國立清華大學, 生命科學系
2005

Abstract

炎症疾病 橋本氏甲狀腺炎 介白素18 氣喘 類風溼性關節炎 維他命D受體 inflammatory disease Hashimoto's Thyroiditis Interleukin-18 asthma rheumatoid arthritis vitamin D receptor
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.

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