痛風與乙型轉型生長因子(TGFβ1)基因多型性的相關性研究

The Association Study between Gout and Transforming Growth Factor-β1 Gene Polymorphisms

蔡豐吉(Feng-Chi Tsai)

指導教授 ： 章順仁

高雄醫學大學/醫學院/醫學研究所/碩士(2006年)

https://doi.org/10.6832/KMU.2006.00132

摘要

前言:痛風（gout）是一種慢性發炎性疾病，其關節內痛風的急性發作與自發性緩解機制涉及若干前發炎因子與抗發炎因子間拮抗作用的平衡，新近發現TGFβ1的抗發炎特性在痛風關節發炎之緩解扮演重大角色，引發了本研究探討其與痛風間相關性的動機。
目的:本研究主要探討TGFβ1基因的多型性與罹患痛風疾病是否有相關性存在；所探討之標記基因包括TGFβ1 promoter 與codon 10 兩個變異點。
材料與方法:利用PCR-RFLP的方式分析痛風患者88位和125位正常人的基因多型性，以了解基因多型性在正常人與痛風病患分佈是否不同，與發病率是否有關。
結果:統計結果發現，在痛風病患與正常對照組之TGFβ1 promoter與codon 10，無論在基因型分佈、對偶基因頻率、對偶基因攜帶率均無明顯的差異性；另外將痛風病患與各基因多型性之臨床表現影響作分析，亦均無明顯差別；相關危險因子方面包括高尿酸值、高總膽固醇、喝酒習慣、高血壓、糖尿病、腎功能不全、高尿酸血症等皆會影響痛風的發生。
結論:並未發現TGFβ1 promoter 和 codon 10 兩個變異點與痛風間具有顯著相關性。建議繼續探討痛風與IL-8、S100A8/A9、MIP-1α和PGE2等四個仲介因子的相關性。

關鍵字

痛風 ； 乙型轉型生長因子 ； 基因多型性 ； 高尿酸血症

並列摘要

INTRODUCTION: Gout is a chronic inflammation disease, the mechanisms of which manifest in acute attack and spontaneous resolution within the joints, involving the balance of the resistance between some pro-inflammation and anti-inflammation mediators. Recently, the finding that the characteristic of anti-inflammation properties of TGFβ1 acts for a greater role of the resolution of gout-like arthritis inflammation induced this investigation of the association between such inflammation and gout.
OBJECTIVE: The major purpose of this study was to investigate whether the transformation of growth factor beta-1（TGFβ1）gene polymorphism was associated with gout.
MATERIALS and METHODS: The marked gene included two mutation points TGFβ1 promoter and codon 10, on which were performed PCR-RFLP assay to investigate the polymorphisms on DNA obtained from 88 gout patients and 125 health persons, to understand the distribution of the polymorphisms as to whether there was quantifiable difficulty level between healthy persons and gout patients and whether this (significant) difference was associated with disease attack ratio.
RESULTS: There were no significant differences in findings of statistical results including genotype distribution、allele frequency and allele carrier frequency. In addition, the effects were also not significant enough to assay clinical behavior of gout patients to the polymorphisms. The associated risk factors included high values of uric acid and total cholesterol and any alcohol drinking habit、high blood pressure、diabetes mellitus （DM）、kidney function insufficiency、hyperuricemia and other factors which all effect the pathogenesis of gout.
CONCLUSIONS: The conclusions of the study were that no significant association exists between the two mutation points TGFβ1 promoter and codon 10 and gout. We recommend continued investigation of the association between gout and these four mediators IL-8、S100A8/A9、MIP-1α and PGE2.

並列關鍵字

gout ； TGF-beta ； polymorphism ； hyperuricemia

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