本文選題：CYBA基因　切入點：多態(tài)性　出處：《中南大學(xué)》2014年碩士論文　論文類型：學(xué)位論文

【摘要】：目的：探討NADPH氧化酶p22phox亞基基因(CYBA) rs4673、 rs9932581多態(tài)性與長沙漢族人群腦出血的關(guān)系,分析基因與基因及危險因素交互作用對腦出血的作用。 方法：收集2008年1月至2013年12月在湘雅醫(yī)院神經(jīng)內(nèi)科就診的腦出血患者外周血及臨床資料,所有病例均經(jīng)CT和/或MRI確診(依照第四屆全國腦血管病學(xué)術(shù)會議診斷標準)。對照組為同期年齡、性別匹配的長沙地區(qū)漢族健康體檢人員。分組如下：1.腦出血組(cerebral hemorrhage CH)760例,根據(jù)出血部位分為以下亞組：①深部出血組(deep cerebral hemorrhage DCH),包含基底節(jié)、丘腦出血535例；②腦葉出血(lobar cerebral hemorrhage LCH)125例；③幕下出血71例；④腦室出血29例；2.對照組748例。采用TaqMan探針方法檢測rs4673、rs9932581多態(tài)性,運用SPSS18.0軟件分析多態(tài)位點與長沙漢族人群腦出血關(guān)系。采用logistic回歸和Andersson交互作用程序進行交互作用分析。 結(jié)果： 1. CYBA基因rs4673多態(tài)T等位基因在CH組的頻率為0.067,在DCH亞組的頻率為0.066,均顯著低于對照組(0.088,P分別為0.035、0.049)。 2. CYBA基因rs9932581多態(tài)G等位基因在CH組和對照組分別為0.369、0.362,兩組比較無顯著差異(P=0.671)；在DCH亞組的頻率為0.421,顯著高于對照組(P=0.002)。 3.分析CYBA基因rs4673、rs9932581多態(tài)與長沙漢族人群血壓關(guān)系發(fā)現(xiàn)：rs4673多態(tài)CT、TT基因型者其收縮壓水平低于CC基因型者(P=0.012),而各基因型舒張壓比較無顯著差別(P=0.083)。rs9932581多態(tài)各基因型的收縮壓、舒張壓水平無顯著差別(P值分別為0.386、0.954)。 4.分析CYBA基因rs4673、rs9932581多態(tài)與出血部位關(guān)系發(fā)現(xiàn),rs4673多態(tài)各基因型在各亞組間分布無顯著差異(P=0.909),rs9932581多態(tài)G等位基因在DCH組、LCH組、幕下出血組、腦室出血的頻率分別為0.421、0.224、0.261、0.293,其頻率分布有顯著性差異(P0.01) 5.構(gòu)建DCH多元logistic回歸模型,-9932581多態(tài)G等位基因,收縮壓、舒張壓、吸煙史、空腹血糖、甘油三脂、HDL最終入選該模型,OR值分別為1.651、4.403、1.850、3.213、4.719、1.971、5.210。交互作用分析示G等位基因與低HDL血癥存在正交互作用(S=1.813),未發(fā)現(xiàn)其與rs4673多態(tài)T等位基因及其他危險因素間存在交互作用。 結(jié)論 1.CYBA基因rs4673多態(tài)T等位基因可能是長沙漢族人群腦出血的保護因素,其攜帶者收縮壓水平較低可能為其機制之一； 2. CYBA基因rs9932581多態(tài)G等位基因可能是長沙漢族人群深部腦出血的危險因素；其與低HDL血癥存在正交互作用,可能為促進深部出血發(fā)生的影響因素之一。
[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 鹵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.
【學(xué)位授予單位】：中南大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2014
【分類號】：R743.34

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