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標題: 探討台灣女性乳癌患者之雌性激素代謝活化基因及去氧核醣核酸修復基因之單一核甘酸多型性與去氧核醣核酸損害之相關性
Investigation of the Associations of Single Nucleotide Polymorphisms in Estrogen Bioactivation and DNA Repair Genes with DNA Damage in Taiwanese Women with Breast Cancer
作者: 阮常新
Juan, Chamg-Hsin
關鍵字: DNA損害;Biomarker;單一核苷酸基因多型性;DNA damage;single nucleotide polymorphsim
出版社: 環境工程學系所
引用: 劉致辰(2011) 探討乳癌患者雌性激素代謝基因之基因多型性與去鹼基核酸背景值之關係。國立中興大學環境工程研究所碩士論文,台灣台中。 Aklillu, E., Oscarson, M., Hidestrand, M., Leidvik, B., Otter, C., Ingelman-Sundberg, M., 2002. Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population. Mol Pharmacol 61, 586-594. 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本研究主要目的為探討台灣女性乳癌患者之乳癌風險因子,包括年齡、身體質量指數 (body mass index, BMI) 、去氧核醣核酸核酸修復 (DNA repair genes)及雌性激素代謝基因 (estrogen bioactivation genes)之多型性與去鹼基核酸背景值(abasic sites, AP sites)之相關性。研究結果顯示,67位乳癌患者AP sites背景值為 25.1 ± 16.1/106核苷酸 (平均 ± 標準偏差)。 乳癌患者之對偶基因變異 (variant alleles) 頻率,包括雌性激素代謝基因之基因多型性CYP1A1 T3801C、CYP1B1 Leu432Val與去鹼基核酸內切酵素(APE1 Asp148Glu)分別為29.9%、8.21% 與 46.3% 。綜合本實驗室先前所研究之81乳癌患者樣本共148位發現,在BMI < 27之乳癌患者其AP sites背景值較BMI ≧ 27之患者高約1.5倍(ρ<0.05),而此趨勢在年齡小於50歲且BMI小於27研究族群內更為明顯(高約三倍,ρ<0.05)。雌性激素代謝基因之基因多型性(CYP1A1、CYP1B1) 與AP sites背景值結果並無明顯之關聯性,但去氧核醣核酸修復基因之基因多型性(AP endonuclease 1, APE1 Asp148Glu)與AP sites背景值則發現Asp/Glu+Glu/Glu之變異基因型較Asp/Asp基因型高約兩倍(p<0.05)。利用多元線性迴歸可得知,當加入乳癌風險因子BMI與年齡時,AP sites之背景值於APE1變異基因型之患者較無變異患者高出1.63倍(p<0.05)。綜合上述研究結果可獲得之結論,乳癌風險因子年齡乳癌患者之AP sites背景值呈現負相關; 雌性激素代謝基因(CYP1A1、CYP1B1)之基因多型性與AP site無明顯關聯性; 去氧核醣核酸修復基因(APE1)之對偶基因變異型 (Asp/Glu + Glu/Glu)與乳癌患者AP sites背景值呈現正相關。

The objectives of this research were to investigate the associations of the risk factors of breast cancer, including body mass index (BMI), age, polymorphisms of genes involved in DNA repair and estrogen metabolism with the background levels of abasic sites (AP sites) in Taiwanese women with breast cancer. Results indicated that the background levels of AP sites (mean � SD) in breast cancer patients (n=67) were estimated to be 25.1 � 16.1 per 106 nucleotides. The frequencies of variant alleles of estrogen bio-activation genes, including CYP1A1 T3801C , CYP1B1 Leu432Val, and AP endonuclease (APE1 Asp148Glu) were estimated to be 29.9% , 8.21%, and 46.3%. We have found total of 148 breast cancer patients that participated in the 81 samples lab study. We noticed that a 1.5-fold increase in the number of AP sites was detected in patients with BMI<27 when compared to those with BMI>27. The tendency was more obvious in subjects with age<50 and BMI<27 (~3 fold). The genotypic polymorphisms of estrogen bioactivation genes (CYP1A1 and CYP1B1) did not correlate with the background levels of AP sites whereas the genotypic polymorphisms of DNA repair gene (APE1) was ~2 fold greater in patients with APE1 (Asp/Glu+Glu/Glu) genotype than in those with Asp/Asp genotype. Results from multiple linear regression indicated that a 1.63-fold increase in the number of AP sites was detected in patients with variant alleles Asp/Glu and Glu/Glu genotypes when compared to those with Asp/Asp genotype. In summary, we concluded that the risk factors of breast cancer, including BMI and age, were negatively correlated with the background levels of AP sites. Additionally, the genotypic polymorphisms of estrogen bio-activation gene (CYP1A1 and CYP1B1) were not correlate with the background levels of AP sites whereas the genotypic polymorphisms of DNA repair gene (APE1 Asp/Glu+Glu/Glu) with breast cancer positively correlated with level of AP sites in breast cancer patients of Taiwanese women.
其他識別: U0005-1607201216371400
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