谷胱甘肽S-转移酶P1基因多态性与广西地区人群乳腺癌易感性的关联研究

发布时间：2018-05-04 06:52

本文选题：乳腺癌 + 单核苷酸多态性　；参考：《广西医科大学》2016年硕士论文

【摘要】：目的:探讨GSTPl(rs1695)基因多态性与广西地区人群乳腺癌的易感性及临床病理特征的相关性。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,以病例-对照研究方法,对广西地区230例乳腺癌患者和230例健康体检者的GSTPl(rs1695)基因多态性进行检测并对其分布情况进行研究,通过统计学方法分析GSTP1基因多态性与乳腺癌罹患风险及临床病理特征的关系。结果:1.Hardy-Weinberg遗传平衡检验两组研究对象GSTPl(rs1695)位点基因型分布均符合Hardy-Weinberg平衡定律。2.在研究的总人群中,GSTPl(rs1695)位点基因型和等位基因的分布与罹患乳腺癌风险的关系在总体研究人群中A/A、A/G和G/G基因型在病例组和对照组中频率分布存在显著差异(P0.05);携带有变异基因的(A/G+G/G)基因型,其基因型频率在病例组明显高于对照组,且两组差异有统计学意义(P0.05);以A/A基因型为参照,A/G基因型和携带有变异基因的(A/G+G/G)基因型个体发生乳腺癌的风险分别增加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在两组的频率分布亦有统计学差异(P0.05);且相对于A等位基因,G 等位基因的 OR 值为 1.497( 95%CI=1.071-2.093, P=0.018)。3.在壮族人群中,GSTPl(rs1695)位点基因型和等位基因的分布与罹患乳腺癌风险的关系在壮族人群A/A、A/G和G/G以及携带有变异基因的(A/G+G/G)基因型在病例组和对照组中频率分布均存在显著差异(P0.05);以A/A基因型为参照,A/G基因型和携带有变异基因的(A/G+G/G)基因型个体罹患乳腺癌风险分别增加 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)。而壮族人群中等位基因 A和G在两组的频率分布亦有统计学差异(P0.05);相对于A等位基因,G等位基因的 OR 值为 2.087( 95%CI=1.066-4.083, P=0.032)。4.在汉族人群中,GSTPl(rs1695)位点基因型和等位基因的分布与罹患乳腺癌风险的关系在汉族人群A/A、A/G和G/G以及携带有变异基因的(A/G+G/G)基因型在病例组和对照组中频率分布均存在显著差异(P0.05);以A/A基因型为参照,A/G基因型和携带有变异基因的(A/G+G/G)基因型个体罹患乳腺癌风险分别增加 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)。而汉族人群中等位基因 A和G在两组的频率分布亦有统计学差异(P0.05);相对于A等位基因,G等位基因的 OR 值为 1.559( 95%CI=1.019-2.383,P=0.041)。5.GSTP1基因型与乳腺癌临床病理特征的关系GSTP1 (rs1695)基因型与乳腺癌病理分型和临床分期的分布均无统计学差异(P0.05)。结论:1.GSTP1(rs1695)位点基因多态性与广西地区人群乳腺癌易感性有关,且突变基因型(A/G+G/G)可能显著增加乳腺癌的罹患风险。2.GSTP1 (rs1695)位点突变等位基因G是乳腺癌的危险因子,相对于等位基因A可能明显增加乳腺癌患病风险。3.通过种族的分层分析发现,在壮族和汉族两人群中均显示GSTP1(rs1695)突变基因型(A/G+G/G)可能显著增加乳腺癌罹患风险,且壮族人群罹患风险明显高于汉族人群,两者均高于总人群。4.GSTP1(rs1695)位点基因多态性与乳腺癌病理分型和临床分期均无显著相关。5.在本研究群体中,GSTP1(rs1695)位点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.

【学位授予单位】：广西医科大学
【学位级别】：硕士
【学位授予年份】：2016
【分类号】：R737.9

【参考文献】