發(fā)布時間：2018-05-04 06:52

  本文選題：乳腺癌 + 單核苷酸多態(tài)性��； 參考：《廣西醫(yī)科大學(xué)》2016年碩士論文

【摘要】：目的:探討GSTPl(rs1695)基因多態(tài)性與廣西地區(qū)人群乳腺癌的易感性及臨床病理特征的相關(guān)性。方法:采用聚合酶鏈反應(yīng)-限制性片段長度多態(tài)性(PCR-RFLP)技術(shù),以病例-對照研究方法,對廣西地區(qū)230例乳腺癌患者和230例健康體檢者的GSTPl(rs1695)基因多態(tài)性進行檢測并對其分布情況進行研究,通過統(tǒng)計學(xué)方法分析GSTP1基因多態(tài)性與乳腺癌罹患風(fēng)險及臨床病理特征的關(guān)系。結(jié)果:1.Hardy-Weinberg遺傳平衡檢驗兩組研究對象GSTPl(rs1695)位點基因型分布均符合Hardy-Weinberg平衡定律。2.在研究的總?cè)巳褐?GSTPl(rs1695)位點基因型和等位基因的分布與罹患乳腺癌風(fēng)險的關(guān)系在總體研究人群中A/A、A/G和G/G基因型在病例組和對照組中頻率分布存在顯著差異(P0.05);攜帶有變異基因的(A/G+G/G)基因型,其基因型頻率在病例組明顯高于對照組,且兩組差異有統(tǒng)計學(xué)意義(P0.05);以A/A基因型為參照,A/G基因型和攜帶有變異基因的(A/G+G/G)基因型個體發(fā)生乳腺癌的風(fēng)險分別增加0.941倍(OR=1.941,95%CI=1.290-2.921,P=0.001)和0.799倍(OR 1.799,95%CI=1.216-2.662,P=0.003 。等位基因A和G在兩組的頻率分布亦有統(tǒng)計學(xué)差異(P0.05);且相對于A等位基因,G 等位基因的 OR 值為 1.497( 95%CI=1.071-2.093, P=0.018)。3.在壯族人群中,GSTPl(rs1695)位點基因型和等位基因的分布與罹患乳腺癌風(fēng)險的關(guān)系在壯族人群A/A、A/G和G/G以及攜帶有變異基因的(A/G+G/G)基因型在病例組和對照組中頻率分布均存在顯著差異(P0.05);以A/A基因型為參照,A/G基因型和攜帶有變異基因的(A/G+G/G)基因型個體罹患乳腺癌風(fēng)險分別增加 2.100 倍(OR=3.100,95%CI=1.369-7.020,P=:0.007)和1.750 倍(OR=2.750,95%CI=1.270-5.954,P=0.010)。而壯族人群中等位基因 A和G在兩組的頻率分布亦有統(tǒng)計學(xué)差異(P0.05);相對于A等位基因,G等位基因的 OR 值為 2.087( 95%CI=1.066-4.083, P=0.032)。4.在漢族人群中,GSTPl(rs1695)位點基因型和等位基因的分布與罹患乳腺癌風(fēng)險的關(guān)系在漢族人群A/A、A/G和G/G以及攜帶有變異基因的(A/G+G/G)基因型在病例組和對照組中頻率分布均存在顯著差異(P0.05);以A/A基因型為參照,A/G基因型和攜帶有變異基因的(A/G+G/G)基因型個體罹患乳腺癌風(fēng)險分別增加 0.967 倍(OR=1.967,95%CI=1.168-3.312,P=0.011)和0.851 倍(OR=1.851, 95%CI=1.125-3.045,P=0.015)。而漢族人群中等位基因 A和G在兩組的頻率分布亦有統(tǒng)計學(xué)差異(P0.05);相對于A等位基因,G等位基因的 OR 值為 1.559( 95%CI=1.019-2.383,P=0.041)。5.GSTP1基因型與乳腺癌臨床病理特征的關(guān)系GSTP1 (rs1695)基因型與乳腺癌病理分型和臨床分期的分布均無統(tǒng)計學(xué)差異(P0.05)。結(jié)論:1.GSTP1(rs1695)位點基因多態(tài)性與廣西地區(qū)人群乳腺癌易感性有關(guān),且突變基因型(A/G+G/G)可能顯著增加乳腺癌的罹患風(fēng)險。2.GSTP1 (rs1695)位點突變等位基因G是乳腺癌的危險因子,相對于等位基因A可能明顯增加乳腺癌患病風(fēng)險。3.通過種族的分層分析發(fā)現(xiàn),在壯族和漢族兩人群中均顯示GSTP1(rs1695)突變基因型(A/G+G/G)可能顯著增加乳腺癌罹患風(fēng)險,且壯族人群罹患風(fēng)險明顯高于漢族人群,兩者均高于總?cè)巳骸?.GSTP1(rs1695)位點基因多態(tài)性與乳腺癌病理分型和臨床分期均無顯著相關(guān)。5.在本研究群體中,GSTP1(rs1695)位點各基因型分布均符合Hardy-Weinberg平衡定律,,表明本研究具有良好的人群代表性。
[Abstract]:Objective: To investigate the correlation between the polymorphism of GSTPl (rs1695) gene and the susceptibility and clinicopathological features of breast cancer in Guangxi population. Methods: polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was used and case control study was applied to the GSTPl (rs169) of 230 cases of breast cancer and 230 health Examiners in the ground area of Guangxi. 5) the gene polymorphism was detected and its distribution was studied. The relationship between the GSTP1 gene polymorphism and the risk of breast cancer and the clinicopathological features was analyzed by statistical method. Results: the genotype distribution of the GSTPl (rs1695) loci in the two groups of subjects was consistent with the Hardy-Weinberg equilibrium law.2. in the 1.Hardy-Weinberg genetic balance test. In the total population of the study, the distribution of GSTPl (rs1695) loci genotypes and alleles was associated with the risk of breast cancer in the overall study population, the frequency distribution of A/A, A/G and G/G genotypes in the case group and the control group was significantly different (P0.05), and the genotype frequency of the variant gene (A/G+G/G) was significant in the case group. The difference between the two groups was significantly higher than that of the control group (P0.05). With the A/A genotype as reference, the risk of breast cancer by A/G genotype and (A/G+G/G) genotype (A/G+G/G) genotype increased by 0.941 times (OR=1.941,95%CI=1.290-2.921, P=0.001) and 0.799 times respectively (OR 1.799,95%CI=1.216-2.662, P=0.003. P=0.003. A and G in two groups. The frequency distribution was also statistically different (P0.05), and the OR value of G allele was 1.497 (95%CI=1.071-2.093, P=0.018).3. in the Zhuang population compared with the A allele. The distribution of GSTPl (rs1695) loci and alleles was associated with the risk of breast cancer in the Zhuang population A/A, A/G and G/G, and carrying variant genes. /G+G/G) there were significant differences in the frequency distribution of the genotype between the case group and the control group (P0.05); the risk of breast cancer with the A/G genotype and the variant gene (A/G+G/G) genotype increased 2.100 times respectively (OR=3.100,95%CI= 1.369-7.020, P=: 0.007) and 1.750 times (P=0.010, OR=2.750,95%CI=1.270-5.954, P=0.010) in the case group and the control group. The frequency distribution of A and G in the two groups was also statistically different (P0.05). Compared with A alleles, the OR value of the G allele was 2.087 (95%CI=1.066-4.083, P=0.032).4. in Han population, and the distribution of the GSTPl (rs1695) loci and alleles was associated with the risk of breast cancer in the Han population A/. The frequency distribution of A, A/G, G/G and the variant (A/G+G/G) genotypes in the case group and the control group were significantly different (P0.05). The risk of breast cancer in A/G genotypes and (A/G+G/G) genotype individuals increased by 0.967 times (OR=1.967,95%CI=1.168-3.312, P=0.011) and 0., respectively, with the A/A genotype. 851 times (OR=1.851, 95%CI=1.125-3.045, P=0.015). The frequency distribution of the middle gene A and G in the Han population was also statistically different (P0.05). The OR value of the G allele was 1.559 (95%CI=1.019-2.383, P=0.041) relative to A alleles. There is no statistical difference between the pathological and clinical stages of breast cancer (P0.05). Conclusion: 1.GSTP1 (rs1695) gene polymorphism is associated with susceptibility to breast cancer in Guangxi population, and mutation genotype (A/G+G/G) may significantly increase the risk of breast cancer risk.2.GSTP1 (rs1695) mutation allele G as a risk factor for breast cancer The relative allele A may significantly increase the risk of breast cancer.3. through racial stratification analysis. The GSTP1 (rs1695) mutation genotype (A/G+G/G) in the Zhuang and Han population (A/G+G/G) may significantly increase the risk of breast cancer, and the risk of the Zhuang population is significantly higher than that of the Han population, both of which are higher than the total population of the population of.4.GS. There is no significant correlation between the polymorphism of TP1 (rs1695) site gene and the pathological classification and clinical stage of breast cancer..5. in this study group, the distribution of GSTP1 (rs1695) loci in each genotype conforms to the law of Hardy-Weinberg balance, indicating that this study has a good population representation.

【學(xué)位授予單位】：廣西醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2016
【分類號】：R737.9

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