子宮內膜異位症的氧化壓力酵素遺傳變異性研究

The Genetic Variants of Oxidative Stress Enzymes in Patients with Endometriosis

楊基正(Chi-Cheng Yang)

指導教授 ： 李宗賢

中山醫學大學/醫學院/醫學研究所/碩士(2016年)

摘要

研究目的：子宮內膜異位症與氧化壓力酵素的關聯性過去一直被討論，本篇文章旨在調查氧化壓力酵素GPX、TXN2與TXNRD1的基因多型性變化在子宮內膜異位症的分布狀況，並試著調查這些酵素在發展子宮內膜異位上是否扮演角色。
研究方法及資料：本篇採用前瞻式研究¬控制組設計，共收集子宮內膜異位患者90位與健檢對照組130位，子宮內膜異位症病患均接受手術及病理證實存在有子宮內膜異位症，且依照”修訂美國生殖醫學會子宮內膜異位分級”分級，抽取兩組個案的血液進行GPX、TXN2與TXNRD1基因型檢驗，並對檢測結果進行統計分析，比較兩組間基因型多型性、等位基因與高風險基因分布差異。
研究結果：統計結果顯示，在基因多型性分布上，僅實驗組的GPX4基因與控制組存在明顯的差異，p值分別為0.004，而等位基因的分布上，實驗組的GPX4與TXN2與控制組有明顯的差異性，p值分別為0.007與0.03。在基因多型性風險分析結果上，GPX4與TXN2基因均存在有高風險基因分布差異，p值分別為0.001與0.043(勝算比為2.842與1.75)。另外，研究結果也顯示，重度子宮內膜異位症患者與輕度患者在GPX4基因型分布明顯不同，p值為0.001。
結論與建議：過去研究對於子宮內膜異位症與氧化酵素關聯性，多半僅限於蛋白質、mRNA階層，本篇研究是第一篇進行上述氧化酵素遺傳基因變異性的研究，依據研究結果，我們推論子宮內膜異位症與氧化壓力酵素GPX4有關連性。

關鍵字

子宮內膜異位症 ； 氧化壓力酵素 ； 基因變異性

並列摘要

Objective：The association between endometriosis and oxidative stress enzymes has been discussed in previous articles. We observed the variation of several oxidative stress enzymes (GPX4, TXN2, and TXNRD1) genotype and tried to describe the distribution in endometriosis patients. Also, we investigated the possible role of these genetic variants in the development of endometriosis.
Methods and Materials：The study used prospective case- control group design. Ninety endometriosis patients and 130 women undergoing health examination were recruited in this survey. The endometriosis patients underwent surgery to confirm the endometriosis by pathohistology. The stage of endometriosis was evaluated according to rASRM score. Both of two groups were drawn the peripheral blood for GPX, TXN2 and TXNRD1 genotype examination. SPSS software was used to analysis of genotype polymorphism, allele frequency and high-risk polymorphism distribution between two groups.
Results: The study revealed GPX4 gene has significant different distribution between two groups in genotype polymorphism (p= 0.004), allele frequency (p=0.007) and high-risk polymorphism (p = 0.001, odds ratio of 1.312). Although TXN2 gene showed the different in allele frequency (p=0.03) and high-risk polymorphism distribution (p=0.043), but no different in genotype polymorphism. In addition, the study also found the genotype polymorphism of GPX4 was associated with stage of the endometriosis. Women who have advanced endometriosis were different from light endometriosis in genetic variants of GPX4 gene (p=0.001).
Conclusion and Suggestion： According to the result, we concluded that the variants of the GPX4 gene likely contribute to the pathogenesis of endometriosis.

並列關鍵字

endometriosis ； oxidative stress enzyme ； genetic variants

參考文獻

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