【摘要】：目的：（1）探討單中心維吾爾族、漢族膽結(jié)石的患病率及可能的風險因素；（2）探討ApoE基因標簽SNP與膽結(jié)石之間的關(guān)系，維吾爾族、漢族膽結(jié)石的可能風險基因型；（3）探討ApoB基因標簽SNP與膽結(jié)石之間的關(guān)系，維吾爾族、漢族膽結(jié)石的可能風險基因型。方法：（1）收集我院體檢中心資料齊全者共3288例，統(tǒng)計膽結(jié)石總患病率、不同民族患病率、不同性別患病率、不同年齡段患病率；按患病率分層方法統(tǒng)計不同性別、不同年齡段、不同民族膽結(jié)石的風險因素行單因素分析，結(jié)果有意義者帶入非條件多因素Logistic回歸，發(fā)現(xiàn)膽結(jié)石的風險因素，同時探討膽結(jié)石患病風險因素在不同區(qū)組間的異同；（2）采用病例-對照研究方法，分別對158名維吾爾膽結(jié)石患者及106名維吾爾族對照、110名漢族膽結(jié)石患者及106名漢族對照，采用限制性片段長度內(nèi)切酶方法進行ApoE基因型分型，，分析基因型分布的民族間差異、疾病間差異、可能的易感基因型；（3）采用病例-對照研究方法，分別對158名維吾爾膽結(jié)石患者及106名維吾爾族對照、110名漢族膽結(jié)石患者及106名漢族對照，采用SNaPshot SNP分型技術(shù)進行ApoB基因型分型，分析基因型分布的民族間差異、疾病間差異、可能的易感基因型。結(jié)果：（1）膽結(jié)石患病率存在民族、年齡差異，性別差異：維吾爾族膽結(jié)石患病率明顯高于漢族（30.66%vs13.39%，P＜0.001）；＞50歲人群膽結(jié)石患病率高于≤50歲人群（34.34%vs11.51%，P＜0.001）；女性膽結(jié)石患病率明顯高于男性（18.14%vs14.61%，P=0.008）。不同年齡段、不同性別間膽結(jié)石患病風險因素不同，但結(jié)果均提示民族為膽結(jié)石的獨立風險因素。維吾爾族與漢族膽結(jié)石風險因素存在差異。共同因素為：年齡、TG，而漢族膽結(jié)石的風險因素還包括：BMI；維吾爾族膽結(jié)石患病風險因素還包括：性別、HDL。分析漢族、維吾爾族膽結(jié)石患者一般特征發(fā)現(xiàn)，維吾爾族膽結(jié)石患者相較于漢族患者具有以下特點：患病年齡大、BMI高、LDL高、TC低、女性比例高、脂肪肝比例低。（2）ApoE基因rs405509位點：在維吾爾族人群中，膽結(jié)石組與對照組間基因型和等位基因分布有明顯差異（P＜0.05）；在漢族人群中，膽結(jié)石組與對照組間基因型和等位基因分布有明顯的差異（P＜0.05），ApoE基因rs769450位點在維族、漢族人群中，膽結(jié)石組與對照組間基因型和等位基因分布均無差異（P＞0.05）；（3）ApoB標簽SNPApoB基因rs676210、rs2854725、rs11676704、rs520354和rs1367117位點的基因型和等位基因分布頻率在維吾爾族膽結(jié)石組和對照組間無差異（P＞0.05）；ApoB基因rs11676704、rs520354位點基因型和等位基因分布頻率在漢族膽結(jié)石組與對照組間的差異均有統(tǒng)計學意義（P＜0.05）。而rs676210、rs2854725和rs1367117位點基因型和等位基因分布頻率在漢族膽結(jié)石組和對照組間未見差異（P＞0.05）。結(jié)論：（1）膽結(jié)石患病率存在年齡、性別、民族差異，維吾爾族膽結(jié)石患病率高于漢族，＞50歲人群膽結(jié)石患病率顯著增高，女性膽結(jié)石患病率明顯高于男性。民族為膽結(jié)石獨立風險因素。不同民族間膽結(jié)石患病風險因素及膽結(jié)石一般特征不盡相同；（2）ApoE基因rs405509位點基因多態(tài)性與維吾爾族、漢族膽結(jié)石有關(guān)聯(lián)。ApoE基因rs769450位點基因多態(tài)性與維吾爾族、漢族膽結(jié)石無關(guān)聯(lián)；（3）ApoB rs11676704、rs520354位點基因多態(tài)性與漢族膽結(jié)石有關(guān)聯(lián)，而與維吾爾族膽結(jié)石無關(guān)。ApoB基因rs676210、rs2854725、rs1367117位點的基因多態(tài)性與維吾爾族、漢族膽結(jié)石均無關(guān)聯(lián)。
[Abstract]:Objective: (1) to investigate the prevalence and risk factors of gallstone in single center Uygur and Han nationality; (2) to explore the relationship between ApoE gene label SNP and cholelithiasis, the possible risk genotypes of gallstones in Uygur and Han nationality; (3) to explore the relationship between ApoB gene label SNP and gallstones, the possibility of gallstone in Uygur and Han nationality Method: (1) 3288 cases were collected in the medical center of our hospital. The total prevalence rate of cholelithiasis, the prevalence rate of different nationalities, the prevalence rate of different sex, and the prevalence rate of different age groups were analyzed. The single factor analysis was made on the risk factors of different sex, different age and different ethnic gallstones according to the prevalence rate stratification method. The risk factors of gallstones were detected by non conditional multifactor Logistic regression, and the risk factors of cholelithiasis were investigated in different areas. (2) 158 Uygur gallstones and 106 Uygur people, 110 Han gallstones and 106 Han people were treated with case control study. According to the restriction fragment length endonuclease method, the ApoE genotyping was used to analyze the differences in genotypes, differences between diseases and possible susceptibility genotypes. (3) 158 Uygur gallstones and 106 vitamin s control, 110 Han gallstones and 106 Han nationality were used in the case control study. In contrast, SNaPshot SNP typing was used to classify ApoB genotypes, and the differences in genotypes, differences between diseases and possible susceptibility genotypes were analyzed. Results: (1) the prevalence of cholelithiasis exists in ethnic groups, age differences and gender differences: the incidence of cholelithiasis in Uygur is significantly higher than that of the Han nationality (30.66%vs13.39%, P < 0.001); > 50 The prevalence of cholelithiasis in the age group was higher than that of the population younger than 50 years (34.34%vs11.51%, P < 0.001). The incidence of gallstones in women was significantly higher than that of men (18.14%vs14.61%, P=0.008). The risk factors of gallstones were different in different age groups, but the results all suggested the independent risk factors of gallstone. The risk factors are: age, TG, and the risk factors of Han gallstones include: BMI; the risk factors of Uygur gallstones include: gender, HDL. analysis of Han, Uygur gallstones general characteristics, Uygur cholelithiasis patients compared with Han patients with the following characteristics: disease: disease Age, high BMI, high LDL, low TC, high female proportion and low fatty liver ratio. (2) rs405509 locus of ApoE gene: among the Uygur population, the distribution of genotypes and alleles between the gallstone group and the control group was significantly different (P < 0.05). In the Han population, the distribution of genotypes and alleles between the gallstone group and the control group was significantly different. (P < 0.05), there was no difference in the distribution of genotypes and alleles between the cholelithiasis group and the control group in the ApoE gene rs769450 loci in the Uygur ethnic group and the Han population (P > 0.05). (3) the ApoB tagging SNPApoB gene rs676210, rs2854725, rs11676704, rs520354 and rs1367117 loci were in the Uygur gallstone group and the frequency distribution frequency. There was no difference between the groups (P > 0.05), and the difference of ApoB gene rs11676704, rs520354 genotype and allele distribution frequency between the Han gallstone group and the control group was statistically significant (P < 0.05), while rs676210, the genotype and allele distribution frequencies of rs2854725 and rs1367117 sites were not poor between the Han gallstone group and the control group. (P > 0.05). Conclusion: (1) the prevalence of gallstones is higher than that of the Han nationality, the prevalence of gallstones in Uygur is higher than that of the Han nationality. The prevalence rate of gallstones in the 50 years old is significantly higher than that of the male. The prevalence of gallstones in women is significantly higher than that in men. The general characteristics are different. (2) the polymorphism of the rs405509 locus of ApoE gene is associated with the Uygur and Han gallstones, and the polymorphism of the rs769450 locus of the.ApoE gene is not associated with the Uygur and Han gallstones; (3) ApoB rs11676704, the polymorphism of the rs520354 locus is associated with the Han gallstones, and is not associated with the Uygur gallstones. The genetic polymorphisms of rs676210, rs2854725 and rs1367117 of.ApoB gene were not associated with gallstones in Uygur and Han nationality.
【學位授予單位】：新疆醫(yī)科大學
【學位級別】：博士
【學位授予年份】：2014
【分類號】：R575.62

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