本文關(guān)鍵詞： 原發(fā)性高血壓 一氧化氮合酶 基因多態(tài)性 貴州 少數(shù)民族　出處：《貴州醫(yī)科大學(xué)》2017年碩士論文　論文類型：學(xué)位論文

【摘要】：目的:探討貴州漢族、苗族、布依族人群eNOS基因上3個(gè)SNP位點(diǎn)(啟動(dòng)子區(qū)rs2070744、第7外顯子rs1799983、14內(nèi)含子rs3918181)及1個(gè)VNTR位點(diǎn)(第4內(nèi)含子27bp VNTR)的多態(tài)性與原發(fā)性高血壓(essential hypertension,EH)的關(guān)系。方法:選取貴州地區(qū)EH患者456例(漢族195例、苗族127例、布依族134例)和體檢健康者453例(漢族206例、苗族111例、布依族136例)為研究對(duì)象,所有EH患者均符合2010年中國(guó)高血壓防治指南的標(biāo)準(zhǔn),收集身高、體重等相關(guān)臨床資料,測(cè)定總膽固醇(Total cholesterol,TC)、甘油三酯(Triglyceride,TG)、空腹血糖、尿酸(Uric acid,UA)。采用Taq-Man MGB探針?lè)▽?duì)上述研究對(duì)象eNOS基因rs2070744、rs1799983、rs3918181等SNP位點(diǎn)進(jìn)行基因分型;采用PCR及瓊脂糖凝膠電泳檢測(cè)27bp VNTR的多態(tài)性,并對(duì)所有研究位點(diǎn)進(jìn)行DNA測(cè)序驗(yàn)證,分析各位點(diǎn)不同基因型與EH的關(guān)系。采用Logistic回歸分析EH發(fā)病的危險(xiǎn)因素,P0.05為差異有統(tǒng)計(jì)學(xué)意義。結(jié)果:(1)貴州漢族、苗族、布依族人群eNOS基因位點(diǎn)rs2070744、rs1799983、rs3918181及27bp VNTR的多態(tài)性分布在EH組與對(duì)照組中均符合Hardy-Weinberg平衡。(2)貴州人群EH患者年齡、體重指數(shù)(Body Mass Index,BMI)、空腹血糖、TG與對(duì)照組相比存在統(tǒng)計(jì)學(xué)差異。按民族分層后,漢族與布依族EH組中年齡、BMI、空腹血糖、TC、TG高于對(duì)照組;苗族EH組中年齡、BMI、空腹血糖高于對(duì)照組;各民族兩組相比,差異均有統(tǒng)計(jì)學(xué)意義(P0.05);Logistic回歸分析校正年齡、BMI、臨床指標(biāo)等混雜因素后,結(jié)果提示年齡、空腹血糖可能是漢族EH的獨(dú)立危險(xiǎn)因素;年齡、BMI、空腹血糖可能是苗族和布依族EH的獨(dú)立危險(xiǎn)因素。(3)貴州人群EH組eNOS基因rs2070744、rs1799983、rs3918181和27bp VNTR的基因型頻率和等位基因頻率與對(duì)照組之間差異無(wú)統(tǒng)計(jì)學(xué)意義(P0.05);按民族分層后,3個(gè)民族EH組eNOS基因上述4個(gè)多態(tài)位點(diǎn)基因型頻率和等位基因頻率與對(duì)照組之間差異無(wú)統(tǒng)計(jì)學(xué)意義(P0.05)。(4)rs1799983位點(diǎn)基因型頻率及等位基因頻率在漢族與布依族之間及苗族與布依族之間分布差異有統(tǒng)計(jì)學(xué)意義(P0.05);27bp VNTR基因型頻率及等位基因頻率在漢族與苗族之間分布差異有統(tǒng)計(jì)學(xué)意義(P0.05);rs2070744位點(diǎn)、rs3918181位點(diǎn)基因型頻率及等位基因頻率在3個(gè)民族之間分布差異無(wú)統(tǒng)計(jì)學(xué)意義(P0.05)。(5)貴州人群中rs2070744位點(diǎn)與27bp VNTR位點(diǎn)間存在強(qiáng)連鎖不平衡。(6)經(jīng)Haploview4.1軟件對(duì)貴州人群eNOS基因rs2070744、27bp VNTR、rs1799983和rs3918181等4個(gè)位點(diǎn)構(gòu)建單倍型并分析,單倍型T-b-G-G、T-b-G-A所占比例較高,所有的單倍型組合在EH組與對(duì)照組間差異無(wú)統(tǒng)計(jì)學(xué)意義(P0.05)。結(jié)論:(1)eNOS基因rs2070744、rs1799983、rs3918181、27bp VNTR等4個(gè)位點(diǎn)多態(tài)性與貴州地區(qū)漢族、苗族、布依族EH的發(fā)生可能不具有相關(guān)性;4個(gè)位點(diǎn)構(gòu)建的單倍型可能與貴州人群EH不相關(guān)。(2)eNOS基因rs1799983、27bp VNTR等兩個(gè)位點(diǎn)基因型頻率及等位基因頻率分布在漢族、苗族、布依族人群之間有差異,rs2070744、rs3918181位點(diǎn)基因型及等位基因頻率分布在貴州苗族、布依族、漢族人群之間無(wú)差異。(3)年齡、BMI、空腹血糖、TC和TG可能是貴州人群EH的易患因素,Logistic回歸分析提示年齡、BMI、空腹血糖可能是貴州人群EH的獨(dú)立危險(xiǎn)因素。(4)貴州人群中rs2070744位點(diǎn)與27bp VNTR位點(diǎn)間存在強(qiáng)連鎖不平衡。
[Abstract]:Objective: To investigate the Guizhou Han, Miao, Buyi people on the eNOS gene of 3 SNP loci (promoter rs2070744, exon seventh rs1799983,14 intron rs3918181) and 1 VNTR loci (fourth 27bp intron VNTR) the polymorphism and essential hypertension (essential, hypertension, EH). Methods: the relationship between Guizhou selected 456 EH patients (195 cases of Han, Miao and Buyi in 127 cases, 134 cases) and 453 cases of healthy subjects (111 cases and 206 cases of Han, Miao, Buyi and 136 cases) as the research object, all EH patients were consistent with the 2010 guidelines for prevention and treatment of high blood pressure Chinese standard, collect relevant clinical height. Weight determination of total cholesterol (Total, cholesterol, TC), triglycerides (Triglyceride, TG), fasting blood glucose, uric acid (Uric, acid, UA). Using Taq-Man MGB probe method rs1799983 on the research object of eNOS gene rs2070744, rs3918181, SNP genotyping; The polymorphism of PCR and agarose gel electrophoresis of 27bp VNTR, and DNA sequencing of all research sites, to analyze their relationship between different genotypes of EH. Logistic regression was used to analyze the risk factors of EH P0.05, the difference was statistically significant. Results: (1) Guizhou Han, Miao, Buyi people eNOS gene loci rs2070744, rs1799983, rs3918181 and 27bp polymorphism of VNTR in EH group and control group were consistent with the balance of Hardy-Weinberg. (2) EH in Guizhou population with age, body mass index (Body Mass, Index, BMI), fasting blood glucose, TG compared with the control group. There were significant differences in ethnic stratification, age, Han nationality and Buyi group EH BMI, fasting blood glucose, TC, TG higher than the control group; EH group in age, Miao BMI, fasting blood glucose was higher than the control group; the two ethnic group compared, the differences were statistically significant (P0.05); Logistic regression analysis Adjustment for age, BMI, clinical indicators and other confounding factors, the results showed that age, fasting blood glucose may be an independent risk factor for EH in Han population; age, BMI, fasting blood glucose may be independent risk factors of Miao and Buyi EH. (3) Guizhou group EH eNOS gene rs2070744, rs1799983, there was no significant difference between rs3918181 27bp and VNTR genotype and allele frequencies and the control group (P0.05); according to the national stratification, between the 3 ethnic group EH eNOS gene of the 4 polymorphic loci genotype and allele frequencies between control group and the difference was statistically significant (P0.05). (4) rs1799983 genotype the frequency and allele frequency between Han nationality and Buyi and Miao and Buyi distribution difference was statistically significant (P0.05); 27bp VNTR genotype and allele frequencies in the Han and Miao nationality between the distribution difference was statistically significant (P0.05); rs2070744 locus, rs3918181 genotype frequency and allele frequency distribution in the differences between the 3 ethnic groups had no statistical significance (P0.05). (5) in Guizhou population rs2070744 locus and 27bp locus VNTR has strong linkage disequilibrium. (6) by Haploview4.1 software of rs2070744,27bp VNTR eNOS gene in Guizhou population. Rs1799983 and rs3918181 4 loci and haplotype construction analysis, haplotype T-b-G-G, T-b-G-A accounted for a higher proportion, there was no significant difference in all the haplotype combination between EH group and control group (P0.05). Conclusion: (1) eNOS gene rs2070744, rs1799983, rs3918181,27bp Han, VNTR 4 polymorphism and Guizhou area Miao, Buyi and occurrence of EH may not have the correlation; 4 loci haplotypes were constructed may not be associated with EH in Guizhou population. (2) eNOS gene rs1799983,27bp VNTR two locus genotype frequency and allele The gene frequency distribution in the Han, Miao, Buyi people have differences between rs2070744 rs3918181 genotype and allele frequency distribution in Guizhou Miao, Buyi, no difference between Han population. (3) age, fasting blood glucose, BMI, TC and TG may be risk factors for Guizhou EH group. Logistic regression analysis showed that age, BMI, fasting blood glucose may be independent risk factors of EH in Guizhou population. The population of Guizhou (4) in rs2070744 site and 27bp site of VNTR between the strong linkage disequilibrium.

【學(xué)位授予單位】：貴州醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2017
【分類號(hào)】：R544.11

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