本文選題：代謝綜合征 + 基因多態(tài)性��； 參考：《寧夏醫(yī)科大學》2015年碩士論文

【摘要】：目的探討HSP70家族基因和TNF-α基因多態(tài)性、單體型及其交互作用與寧夏回漢民族代謝綜合征發(fā)病的關(guān)系,以闡明HSP70與TNF-а基因及其交互作用對MS易感性及轉(zhuǎn)歸的影響,為尋找代謝綜合征人群防治的易感生物標志物、人群防治的策略及基因-基因連鎖或交互作用研究奠定理論基礎(chǔ)。方法采用成組病例-對照研究,選取2012年1月-2013年12月間在寧夏醫(yī)科大學附屬總醫(yī)院及吳忠市人民醫(yī)院進行定期健康檢查和在內(nèi)分泌科住院的寧夏機關(guān)及事業(yè)單位的20-60歲職工中,根據(jù)納入及排除標準,確定622例無遺傳關(guān)系的患有代謝綜合征的病人作為病例組,其中回族男性有153例(24.6㳠),回族女性156例(25.1㳠),漢族男性161例(25.9㳠),漢族女性152例(24.4㳠),平均年齡(50.38±6.78)歲;從同一時期健康檢查的人群中選擇600名無血緣關(guān)系的健康人為對照組,回、漢民族各300名(50%),平均年齡(50.35±6.83)歲;對研究對象進行一般情況問卷調(diào)查、體格相關(guān)檢查及實驗室相關(guān)生化指標檢測,并采用Taqman探針法檢測HSP70-1基因-110位點、+190位點,HSP70-hom基因+2437位點和TNF-α基因-308位點的多態(tài)性;采用SNa Pshot法檢測HSP70-2基因+2074位點;采用PCR直接測序法檢測HSP70-2基因+1267位點。結(jié)果HSP70-1基因-110、+190位點,HSP70-hom基因+2437位點,TNF-α基因-308位點,HSP70-2基因+1267位點、+2074位點基因型及其等位基因頻率在回、漢民族中的分布,差異均無顯著性(均P0.05);TNF-α基因-308位點、HSP70-1基因-110位點、HSP70-hom基因+2437位點、HSP70-2基因+2074位點各基因型及其等位基因頻率在MS組與對照組中分布的差異均有顯著性(均P0.05),HSP70-1基因+190位點各基因型及等位基因在MS組與對照組中的分布差異均無顯著性(均P0.05),HSP70-2基因+1267位點各基因型在MS組與對照組中分布的差異沒有顯著性(P0.05),等位基因在MS組與對照組中分布的差異有顯著性(P0.05);HSP70家族基因中的+2437、-110、+190、+1267四個位點之間、+2074與+2437位點之間的D’值均大于0.8,說明它們之間存在著強連鎖不平衡;HSP70-2基因+2074位點與HSP70-hom基因+2437位點構(gòu)成的單體型,HSP70-2基因-2074位點、HSP70-hom基因+2437位點、TNF-α基因-308位點構(gòu)成的單體型,HSP70-1基因-110、+190位點,HSP70-2基因+1267位點,HSP70-hom基因+2437位點構(gòu)成的單體型,TNF-α基因-308位點,HSP70-1基因-110、+190位點,HSP70-2基因+1267位點,HSP70-hom基因+2437位點構(gòu)成的單體型與MS均存在相關(guān)性;HSP70-1基因+190位點,HSP70-hom基因+2437位點,HSP70-2基因+1267位點,TNF-α基因-308位點組成的4因子模型具有最高的MS發(fā)病相對風險性。結(jié)論HSP70家族基因-110、190、+1267、+2074、+2437位點及TNF-α基因-308位點在回漢民族間基因型及其等位基因分布情況基本一致;HSP70家族基因-110、+1267、+2074、+2437位點及TNF-α基因-308位點多態(tài)性與寧夏人群代謝綜合征的發(fā)病具有顯著關(guān)聯(lián),-110、+2437位點的C等位基因,+1267、+2074位點的G等位基因及-308位點的A等位基因突變增加了MS的發(fā)病風險;+2437、+2074位點間,+2437、-110、+190、+1267四個位點兩兩間均存在連鎖不平衡現(xiàn)象;單體型C-G、A-T-C、A-T-G、G-C-G、C-A-G-A、A-T-C-C-G、G-C-A-G-A可能增加MS的發(fā)病風險,單體型T-C、G-T-C、T-A-G-A、G-T-A-G-A可能降低MS的發(fā)病風險;-308-+1267-+2437-+190這4個位點的交互作用與代謝綜合征有關(guān);+190位點單位點可能與MS不存在關(guān)聯(lián)性,但可能通過與308-+1267-+2437位點的交互作用而增加MS的易感性;+190、+1267位點分別與-308、-110、+2074、+2437位點的交互作用可增加MS的發(fā)病風險。-110、+2437位點在MS的發(fā)病中具有協(xié)同的交互作用,+2074和-308位點在MS的發(fā)病中具有拮抗的交互作用。
[Abstract]:Objective to investigate the relationship between the polymorphism of HSP70 family gene and TNF- alpha gene, haplotype and its interaction with the metabolic syndrome of Ningxia Hui and Han nationalities, in order to clarify the effect of HSP70 and TNF- gene and their interaction on the susceptibility and prognosis of MS, and to find a susceptible biomarker for the prevention and control of the population of metabolic syndrome and the strategy of population control and prevention. A theoretical basis was laid on the study of gene gene linkage or interaction. A group of case - control studies were used to select the 20-60 year old workers of the 20-60 year old workers in the affiliated general hospital of Ningxia Medical University and the people's Hospital of Wuzhong City, Wuzhong City, in December, in January 2012, and in the Department of Endocrinology and institutions in the Department of Endocrinology. In the criteria of entry and exclusion, 622 patients with no genetic relationship with metabolic syndrome were identified as case groups, of which 153 (24.6), 156 Hui women (25.1), 161 Han men (25.9?), 152 Han (24.4?), and an average age of (50.38 + 6.78) years of age, were selected from the population of the same period of health examination. The healthy people of the relationship were 300 (50%), the average age of 300 (50%), the average age of (50.35 + 6.83) years. The general situation questionnaire survey, the physical correlation examination and laboratory related biochemical indexes were carried out, and the HSP70-1 gene -110 locus, the +190 site, the HSP70-hom gene +2437 site and the TNF- alpha gene -308 were detected by the Taqman probe method. The polymorphism of the loci; the detection of the +2074 locus of the HSP70-2 gene by SNa Pshot; the detection of the +1267 locus of the HSP70-2 gene by PCR direct sequencing. Results of the -110, +190, HSP70-hom gene +2437 sites, the locus of the alpha gene, the allele, and the allele frequencies of the HSP70-1 gene in the Hui, Han nationality There were no significant differences in distribution (all P0.05); TNF- alpha gene -308 site, HSP70-1 gene -110 site, HSP70-hom gene +2437 locus, HSP70-2 gene +2074 loci and allele frequencies in the MS group and the control group were significantly different (P0.05). The genotype and alleles of the HSP70-1 gene locus were in the group and the allele There was no significant difference in distribution in the control group (all P0.05). There was no significant difference in the distribution of the genotype +1267 loci of the HSP70-2 gene between the MS group and the control group (P0.05). The difference in the distribution of alleles in the MS group and the control group was significant (P0.05), and +2437, -110, +190, and +1267 four sites in the HSP70 family gene. The D 'values between the points are more than 0.8, indicating that there is a strong linkage disequilibrium between them; the +2074 loci of the HSP70-2 gene and the +2437 locus of the HSP70-hom gene, the -2074 loci of the HSP70-2 gene, the +2437 site of the HSP70-hom gene, the -308 loci of the TNF- alpha gene, the HSP70-1 gene, the locus, and the locus of the gene. The +2437 loci of the P70-hom gene, the -308 locus of the TNF- a gene, the HSP70-1 gene -110, the +190 site, the +1267 locus of the HSP70-2 gene, and the +2437 loci of the HSP70-hom gene are related to the MS. The submodel has the highest relative risk of MS onset. Conclusion the distribution of genotype and allele of the HSP70 family gene -110190, +1267, +2074, +2437 and TNF- alpha genes in the Hui Han nationality is basically the same. The HSP70 family gene -110, +1267, +2074, polymorphism and metabolism of the Ningxia population are associated with the metabolism of the population. The pathogenesis of syndrome has a significant association. The C allele of -110, +2437 loci, G allele of +1267, +2074 site and A allele of -308 loci increase the risk of MS; +2437, +2074 loci, +2437, four loci are in linkage disequilibrium; -T-C-C-G, G-C-A-G-A may increase the risk of MS, and somatotype T-C, G-T-C, T-A-G-A, G-T-A-G-A may reduce the risk of MS; the interaction of the 4 loci of -308-+1267-+2437-+190 is related to the metabolic syndrome; the +190 locus point may not be associated with MS, but may be increased by interaction with the 308-+1267-+2437 site. With the susceptibility to MS, the interaction of +190 and +1267 sites with -308, -110, +2074, +2437 loci can increase the risk of MS, and the +2437 loci have synergistic interaction in MS. +2074 and the locus have antagonistic interactions in the pathogenesis of MS.
【學位授予單位】：寧夏醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2015
【分類號】：R589

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本文編號：2109984