CYBA基因rs4673、rs9932581多态性与长沙汉族人群脑出血关系研究

发布时间：2018-03-02 11:42

本文选题：CYBA基因　切入点：多态性　出处：《中南大学》2014年硕士论文　论文类型：学位论文

【摘要】：目的：探讨NADPH氧化酶p22phox亚基基因(CYBA) rs4673、 rs9932581多态性与长沙汉族人群脑出血的关系,分析基因与基因及危险因素交互作用对脑出血的作用。方法：收集2008年1月至2013年12月在湘雅医院神经内科就诊的脑出血患者外周血及临床资料,所有病例均经CT和/或MRI确诊(依照第四届全国脑血管病学术会议诊断标准)。对照组为同期年龄、性别匹配的长沙地区汉族健康体检人员。分组如下：1.脑出血组(cerebral hemorrhage CH)760例,根据出血部位分为以下亚组：①深部出血组(deep cerebral hemorrhage DCH),包含基底节、丘脑出血535例；②脑叶出血(lobar cerebral hemorrhage LCH)125例；③幕下出血71例；④脑室出血29例；2.对照组748例。采用TaqMan探针方法检测rs4673、rs9932581多态性,运用SPSS18.0软件分析多态位点与长沙汉族人群脑出血关系。采用logistic回归和Andersson交互作用程序进行交互作用分析。结果： 1. CYBA基因rs4673多态T等位基因在CH组的频率为0.067,在DCH亚组的频率为0.066,均显著低于对照组(0.088,P分别为0.035、0.049)。 2. CYBA基因rs9932581多态G等位基因在CH组和对照组分别为0.369、0.362,两组比较无显著差异(P=0.671)；在DCH亚组的频率为0.421,显著高于对照组(P=0.002)。 3.分析CYBA基因rs4673、rs9932581多态与长沙汉族人群血压关系发现：rs4673多态CT、TT基因型者其收缩压水平低于CC基因型者(P=0.012),而各基因型舒张压比较无显著差别(P=0.083)。rs9932581多态各基因型的收缩压、舒张压水平无显著差别(P值分别为0.386、0.954)。 4.分析CYBA基因rs4673、rs9932581多态与出血部位关系发现,rs4673多态各基因型在各亚组间分布无显著差异(P=0.909),rs9932581多态G等位基因在DCH组、LCH组、幕下出血组、脑室出血的频率分别为0.421、0.224、0.261、0.293,其频率分布有显著性差异(P0.01) 5.构建DCH多元logistic回归模型,-9932581多态G等位基因,收缩压、舒张压、吸烟史、空腹血糖、甘油三脂、HDL最终入选该模型,OR值分别为1.651、4.403、1.850、3.213、4.719、1.971、5.210。交互作用分析示G等位基因与低HDL血症存在正交互作用(S=1.813),未发现其与rs4673多态T等位基因及其他危险因素间存在交互作用。结论 1.CYBA基因rs4673多态T等位基因可能是长沙汉族人群脑出血的保护因素,其携带者收缩压水平较低可能为其机制之一； 2. CYBA基因rs9932581多态G等位基因可能是长沙汉族人群深部脑出血的危险因素；其与低HDL血症存在正交互作用,可能为促进深部出血发生的影响因素之一。
[Abstract]:Objective: to investigate the relationship between NADPH oxidase p22phox subunit gene CYBAR rs4673, rs9932581 polymorphism and intracerebral hemorrhage in Changsha Han population, and to analyze the effect of gene, gene and risk factors on ICH. Methods: the peripheral blood and clinical data of patients with intracerebral hemorrhage were collected from January 2008 to December 2013 in Department of Neurology, Xiangya Hospital. All cases were confirmed by CT and / or MRI (according to the diagnostic criteria of the 4th National Conference on Cerebrovascular Disease. The control group was the same age and gender matched Han nationality health examiner in Changsha. The patients were divided as follows: 1. Cerebral hemorrhage CH)760 in cerebral hemorrhage group. According to the location of bleeding, the deep cerebral hemorrhage DCHH of the deep bleeding group was divided into the following subgroup: 1: 1, including basal ganglia. There were 535 cases of thalamic hemorrhage with lobar cerebral hemorrhage LCH)125, 71 cases with subtentorial hemorrhage, and 29 cases with intraventricular hemorrhage. The polymorphism of rs4673 3 rs9932581 was detected by TaqMan probe method in 748 cases of control group. The relationship between polymorphic loci and intracerebral hemorrhage in Changsha Han population was analyzed by SPSS18.0 software, and the interaction was analyzed by logistic regression and Andersson interaction program. Results:. 1. The frequency of rs4673 polymorphism T allele of CYBA gene was 0.067 in Ch group and 0.066 in DCH subgroup. 2. The rs9932581 polymorphism G allele of CYBA gene in Ch group and control group were 0.369 and 0.362, respectively. There was no significant difference between the two groups, but the frequency in DCH subgroup was 0.421, which was significantly higher than that in control group. 3. The relationship between rs4673 rs9932581 polymorphism of CYBA gene and blood pressure in Changsha Han population was analyzed. It was found that the systolic blood pressure of 10 rs4673 polymorphic CTT TT genotype was lower than that of CC genotype, but there was no significant difference in diastolic blood pressure between different genotypes. There was no significant difference in diastolic blood pressure (P = 0.386 卤0.954). 4. The analysis of the relationship between rs4673 rs9932581 polymorphism and bleeding location of CYBA gene showed that there was no significant difference in the distribution of rs4673 polymorphism among subgroups. The allele of rs9932581 G in DCH group and subtentorial hemorrhage group was not significantly different. The frequency of intraventricular hemorrhage was 0.421U 0.2240.261U 0.293.The frequency distribution was significantly different (P0.01). 5. To construct a DCH multivariate logistic regression model with polymorphic G alleles, systolic blood pressure, diastolic blood pressure, smoking history, fasting blood glucose, fasting blood glucose, systolic blood pressure (SBP), diastolic blood pressure (DBP). The OR value of triglyceride triglyceride HDL was 1.6514.4031.8503.2134.7191.971 and 5.210 respectively. The interaction analysis showed that there was a positive interaction between G allele and hypoglycemia, and no interaction between G allele and rs4673 polymorphism T allele and other risk factors was found. Conclusion. 1. The rs4673 polymorphism T allele of CYBA gene may be the protective factor of cerebral hemorrhage in Changsha Han population, and the low systolic blood pressure level of the carrier may be one of its mechanisms; 2. The rs9932581 polymorphism G allele of CYBA gene may be the risk factor of deep cerebral hemorrhage in Changsha Han population, and it has positive interaction with hypoglycemia, which may be one of the influencing factors to promote the occurrence of deep hemorrhage.
【学位授予单位】：中南大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R743.34

【相似文献】