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1.
载脂蛋白B基因多态性及血脂成分与胆石病关系的研究 总被引:6,自引:2,他引:6
目的 观察载脂蛋白B(ApoB)基因XbaI、EcoR I位点多态性、血脂水平和胆石病之间的关系。方法 通过病例对照研究设计,采用PCR—RFLP技术对106例胆石病患者和105例对照的进行基因和血脂水平分析比较。结果 胆石病组和对照组ApoB基因Xba I位点X X-、X-X-基因型构成显著不等;胆石病组X 等位基因频率显著高于对照组(0.104与0.052);X X-基因型者,胆石病组的低密度脂蛋白胆固醇(LDLc)、ApoB水平显著高于对照组,HDL水平显著低于对照组。胆石病组和对照组ApoB基因EcoR I位点E E-和E E 基因型频率构成差异有显著意义,胆石病组E-等位基因频率显著高于对照组;E E 基因型者,胆石病组LDLc、ApoB水平显著高于对照组,HDLc水平显著低于对照组。在胆石病组中E E-基因型LDLc水平高于E E 基因型(P=0.059)。结论 胆石病发生与ApoB基因Xba I、EcoR I位点多态性存在关联,X 和E-等位基因的变异影响脂质代谢,从而有利于胆石的形成。 相似文献
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Kurzawski M Juzyszyn Z Modrzejewski A Pawlik A Wiatr M Czerny B Adamcewicz R Droździk M 《Archives of medical research》2007,38(3):360-363
Cholelithiasis is one of the most prevalent gastroenterological diseases, precipitated mainly by environmental factors. However, twin studies provided strong evidence for a role of genetic factors in the disease pathogenesis. An association between plasma lipoprotein levels and gallstone disease (GSD) was presented. Apolipoprotein B is an essential structural component of triglyceride-rich lipoprotein particles and plays an important role in the maintenance of cholesterol homeostasis in mammals. Various studies have shown a relationship between APOB gene polymorphisms and lipoprotein levels, but only few investigated a potential association between APOB polymorphism and GSD, giving contrary results. In the current study, an association between common polymorphisms in APOB gene (T2488T and E4154K) and cholesterol gallstone disease was examined. Two hundred and forty patients of Caucasian origin suffering from cholelithiasis, as well as 217 healthy individuals, were included in the study. Patients were genotyped for two single nucleotide polymorphisms (SNPs) in APOB gene: 2488C>T (XbaI), and 4154G>A (EcoRI) using PCR-RLFP method. The resulting analysis has shown that polymorphic loci in positions 2488 and 4154 in APOB gene are in full linkage in a Polish population and form only three haplotypes: 2488C-4154G, 2488T-4154G and 2488C-4154A. Frequency and distribution of 2488C>T alleles did not differ significantly between patients and controls. The 4154G allele has been found to be associated with GSD (p=0.001). A risk of gallstone formation was reduced in 4154AA homozygotes (OR=0.25, p=0.009) and heterozygous individuals (OR=0.63, p=0.03) as compared to 4154GG homozygotes. Additionally, 2488C-4154A haplotype was identified as a protective factor against GSD (p=0.04). Our results suggest that SNPs in APOB, potentially considered as one of lith genes as well as certain haplotypes, may be risk factors for GSD. 相似文献
3.
载脂蛋白B基因多态性与动脉粥样硬化性脑梗死的关系 总被引:10,自引:0,他引:10
目的 探讨汉族人载脂蛋白 B(apolipoprotein B, Apo B) 基因变异与动脉粥样硬化性脑梗死的关系。方法 用聚合酶链反应( P C R) 对150 例动脉粥样硬化性脑梗死患者及301 名健康人的 Apo B 基因 Xba I酶切位点限制性片段长度多态性进行了研究。结果 脑梗死患者及正常人均以 X- X- 为主要基因型,频率分别为0907 、0948 ,少见 X+ X- 、未见 X+ X+ 基因型,2 组人群基因型分布处于 Hardy Weinberg 平衡;少见的 X+ 等位基因, 其频率明显低于文献报道的白种人,其频率分别为0027 、0418 、0454 、0479( 均为 P< 001) ;脑梗死组 X+ 等位基因频率明显高于对照组,分别为0053 、0027( P< 005) ;脑梗死组平均血清总胆固醇水平明显升高,分别为(53 ±13) 、(49 ±13) mmol/ L( P< 005) , Apo A I水平、 Apo A I/ Apo B 比值均明显降低,分别为(102 ±034) 、(126 ±040) g/ L,( 均为 P< 001) ;脑梗死组具有 X+ X- 基因型个体血清 Apo B 平 相似文献
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Association study of the endothelial nitric oxide synthase gene polymorphisms with essential hypertension in northern Han Chinese 总被引:13,自引:1,他引:12
Background Nitric oxide (NO) synthesized by endothelial nitric oxide synthase (eNOS) plays an important role in both the regulation of endothelial function and the control of blood pressure. Up to now, there has been conflicting data regarding the association between three clinically relevant polymorphisms (T-786C, intron4b/a and G894T) of the eNOS gene and essential hypertension. 相似文献
5.
目的:为观察中国人载脂蛋白B基因变异的频率及其与动脉粥样硬化性脑梗塞(ACI)的关联。方法:本文采用聚合酶链反应(PCR)对110例ACI患者及22例健康人的载脂蛋白B基因XbaI酶切位点限制性片段长度多态性(RLEP)进行了研究。结果:ACI患者及正常人均以X--为主要基因型,少见X -式团型,未见X 基因型,两组人群基因型分布处于Hardy-Weinberg平衡之中(P>0.05);少见的X 等位基因,其频率非常显著低于白种人(P均<0.01);ACI组X 等位基因频率明显高于正常对照组(0.057vs0.025,P<0.05);ACI组具有X -基因型与X--基因型者比较,血清ApoB水平明显升高(P<0.05);ACI组与对照组比较,血清总胆固醇、甘油三酯和低密度脂蛋白水平显著升高,高密度脂蛋白及载脂蛋白AI及载脂蛋白AploAL/ApoB比值显著降低。结论:载脂蛋白B基因XbaI位点 X 等位基因,与 ACI发生可能有一定关联;通过升高 ApoB水平进而影响脂质代谢,增加动脉粥样硬化的易感性。 相似文献
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目的:探讨中国南方汉族人群中雌激素受体α(ERα)基因XbaⅠ酶切多态性与冠心病危险因素的相关性。方法:应用聚合酶链反应-限制片断长度多态性(PCR—RFLP)分析的方法,检测236例冠心病(CAD)患者和117例对照组的ER基因型,并比较其与相关临床指标的关系。结果:ERα基因XbaⅠ多态性存在XX、Xx、xx三种基因型,ERα、XbaⅠ基因多态性与CAD患者年龄、性别、高血压、糖尿病、吸烟等CAD的经典危险因素及胆固醇、低密度脂蛋白、高密度脂蛋白、甘油三脂等生化因素含量无关(P〉0.05)。结论:在中国南方汉族人群中存在着ERα、XbaⅠ基因多态性,与冠心病的危险因素无相关性。 相似文献
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雌激素受体基因多态性与脑梗死的相关性研究 总被引:7,自引:0,他引:7
目的 探讨中国汉族人群雌激素受体 (ER)基因PvuⅡ和XbaⅠ酶切多态性与脑梗死的相关性。方法 采用病例 对照研究方法和PCR RFLP方法 ,检测 2 34例脑梗死和 2 59例非脑血管病患者的ER基因PvuⅡ及XbaⅠ多态性 ,用多元Logistic回归模型分析与脑梗死的相关性。结果 经年龄、性别、吸烟、饮酒、文化程度、高血压、糖尿病、冠心病、高脂血症调整后可见 :(1 )ER基因PvuⅡ酶切多态性的Pp基因型致脑梗死发病危险性显著增加 (OR =1 97,95 %CI:1 2 1~ 3 2 1 ) ;(2 )ER基因XbaⅠ酶切多态性与脑梗死无显著相关性 ;(3)ER基因PPXx Ppxx基因型经高血压、高脂血症分层前后均致脑梗死发病危险性显著增加 (OR值分别为 1 67,2 52及 2 1 8,P <0 0 5) ;(4)ER基因PvuⅡ酶切多态性与高血压、糖尿病、高脂血症对脑梗死的发生具有明显的协同作用。结论 ER基因可能是中国人群脑梗死的遗传易感基因 相似文献
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Noninsulindependentdiabetesmelitus(NIDDM)ischaracterizedbyabnormalinsulinsecretionandinsulinresistance.Geneticfactorscontri... 相似文献
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目的研究青岛地区汉族人群中载脂蛋白A5基因(APOA5)-1131T/C多态性与老年原发性高血压病之间的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测130例老年原发性高血压病患者(老年高血压组)和120例健康体检者(对照组)APOA5-1131T/C多态性基因型和等位基因频率分布。同时收集2组研究对象的体质量指数(BMI)、血压水平和生活方式,采用生物化学方法检测研究对象的血脂、脂蛋白和血糖水平。结果老年高血压组BMI、吸烟史、高血压病家族史、收缩压(SBP)、舒张压(DBP)、总胆固醇(TC)、甘油三酯(TG)及低密度脂蛋白胆固醇(LDL-C)均高于对照组,高密度脂蛋白胆固醇(HDL-C)水平低于对照组(P<0.01)。APOA5-1131T/C多态性PCR扩增片段大小为188 bp。老年高血压组中APOA5-1131T/C位点基因型以TC型多见,其次为TT型,而CC型比较少见;对照组中APOA5-1131T/C位点基因型以TT型多见,其次为TC型,而CC型比较少见;2组等位基因频率分布均以T等位基因为常见等位基因,C等位基因为少见等位基因。2组间基因型频率和等位基因频率分布差别均有统计学意义(P<0.05,P<0.01)。APOA5基因型频率的相对风险分析显示,CC型纯合子和TC型杂合子患高血压病的风险高于TT型纯合子(P<0.05)。2组APOA5-1131T/C多态性中TC和CC基因型的TG水平高于TT基因型(P<0.01),其他血脂指标各基因型间差别无统计学意义(P>0.05)。结论 APOA5-1131T/C多态性影响血浆TG水平,APOA5-1131C等位基因可能是青岛地区汉族人老年高血压发病的独立危险因素。 相似文献
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β2-AR基因A46G多态性与原发性高血压、2型糖尿病的关系 总被引:2,自引:0,他引:2
目的 :探讨 β2 肾上腺素能受体 (Beta 2 adrenergicreceptor,β2 AR)基因A4 6G多态性与原发性高血压和2型糖尿病的关系。方法 :应用聚合酶链反应 限制性片段长度多态性的方法 ,检测 1 2 3例健康人 ,1 0 9例原发性高血压患者及 1 0 8例 2型糖尿病病人的 β2 AR基因型。用生化技术测定研究对象的空腹血糖、总胆固醇、甘油三脂、高密度脂蛋白 胆固醇。结果 :原发性高血压组G等位基因频率 4 6 .3% ,显著高于正常对照组 35 .8% (χ2 =5 .33,P<0 .0 5 ) ,2型糖尿病组G等位基因频率 4 3.5 % ,与对照组差别无显著性意义 (χ2 =3.0 9,P >0 .0 5 )。结论 :β2 AR基因可能是中国武汉汉族人原发性高血压的重要遗传因素 ,但该基因多态性与 2型糖尿病无显著性相关 相似文献
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目的 :研究我国湖北汉族人LTαNcoⅠ、AspHⅠ基因多态性与胃十二指肠疾病幽门螺旋杆菌 (Hp)感染的相关性 ,探讨宿主对Hp感染的易感性。 方法 :采用PCR 限制性片段长度多态性方法 ,检测 1 1 4例 (5 9例慢性胃炎、38例胃十二指肠溃疡以及 1 7例胃癌 )胃十二指肠疾病患者以及 1 6 4例正常对照者的LTαNcoⅠ、AspHⅠ基因型以及基因频率分布。Hp感染通过胃镜快速尿素酶试验、HpAb IgG及1 4 C 呼气试验综合性诊断。结果 :Hp阳性组LTαNcoⅠ、AspHⅠ基因型和等位基因频率与Hp阴性组、正常对照组差异无显著性。此LTα基因多态性与胃十二指肠疾病亦无相关性。结论 :LT(NcoⅠ、AspHⅠ基因多态性与湖北汉族胃十二指肠疾病患者Hp感染无关 相似文献
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血管紧张素Ⅱ-2型受体基因A1675 G多态性与原发性高血压的相关性研究 总被引:2,自引:0,他引:2
目的:研究血管紧张素Ⅱ-2型受体(AT2R)基因A1675G单核苷酸多态性(SNPs)与中国汉族人群原发性高血压(Essential Hypertension,EH)的关系,探讨AT2R基因在EH发病机制中的作用.方法:应用等位基因特异性引物PCR方法检测181例EH患者(EH组)和187例健康人(对照组)的AT2R基因型,比较各组间的等位基因频率及基因型分布差异,分析AT2R基因A1675G多态性与高血压的关系.结果:AT2R基因A1675G的A等位基因频率在EH组明显高于对照组(53.3%vs44.4%),但两组间差异无显著性意义(P>0.05).在男性组中,EH组的A等位基因频率明显高于对照组(53.6%vs42.9%,P>0.05);而在女性组中,EH组和正常对照组间各基因型(AA,AG,GG)频率及等位基因频率分布的差异均无显著性意义(P>0.05).结论:AT2R的A等位基因频率在EH组的分布较正常对照组高,但无统计学意义,尚不能确定AT2R基因A1675G多态性与中国人原发性高血压的发生存在相关性. 相似文献
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目的从基因水平探讨载脂蛋白E(ApoE)基因多态性与中国北方汉族人血脂的关系。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术测定150例心血管病患者(病例组)和130例正常对照者(对照组)的ApoE基因多态性,并测定血脂代谢的指标,研究ApoE基因多态性与血脂水平的关系。结果在3种等位基因间,总胆固醇(TC)、低密度脂蛋白胆固醇(LDL-C)及载脂蛋白B(ApoB)水平均按ε4基因携带者〉ε3基因携带者〉ε2基因携带者的顺序递减,差异有显著性(对照组均P〈0.05,病例组均P〈0.01),而三酰甘油(TG)、高密度脂蛋白胆固醇(HDL-C)、载脂蛋白AI(ApoAI)水平差异无显著性(均P〉0.05)。结论ApoE基因多态性影响中国北方汉族人的血脂代谢,ε4等位基因对TC、LDL-C及ApoB有升高作用。 相似文献
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目的 探讨维生素受体(VDR)基因多态性与中国汉人肝纤维化的关系。方法 采用聚合酶链反应-限制性长度多态性(PCR-RFLP)方法测定122例乙型肝炎肝纤维化,87例慢性乙型肝炎非肝纤维化患者和61例健康对照者VDR基因多态性,观察其与肝纤维化关系,分析血清肝纤维化标志物、生物化学指标与比较VDR基因型的关系。结果 肝纤维化组aa基因型频率和a等位基因频率均高于非肝纤维化组和健康对照组,差异有统计学意义(P〈0.01),健康对照组与非肝纤维化组VDRaa基因型频率比较无统计学意义(P〉0.05)。未发现VDR基因多态性与肝纤维化标志物、肝功能有关。多因素logistic回归分析显示a等位基因是肝纤维化独立的危险因素。结论 VDR基冈多态性与中国人肝纤维化发病存在基因连锁,a等位基因可能是慢性乙型肝炎进展为肝纤维化的危险因素. 相似文献
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Background Hydrogen sulfide (H2S) plays an important role in the smooth muscle cell relaxation and thereby participates in the development of hypertension. Cystathionine γ-lyase is the key enzyme in the endogenous production of H2S. Up to now, the reports on the relationship between the polymorphisms of cystathionine γ-lyase gene (CTH) and essential hypertension (EH) are limited. This study was designed to assess their underlying relationship.
Methods A total of 503 hypertensive patients and 490 age-, gender- and area-matched normotensive controls were enrolled in this study. Based on the FASTSNP, a web server to identify putative functional single nucleotide polymorphisms (SNPs) of genes, we selected two SNPs, rs482843 and rs1021737, in the CTH gene for genotyping. Genotyping was performed by the polymerase chain reaction and restriction fragment length polymorphism method (PCR-RFLP). The frequencies of the alleles and genotypes between cases and controls were compared by the chi-square test. The program Haplo.stats was used to investigate the relationship between the haplotypes and EH.
Results These two SNPs were in Hardy-Weinberg Equilibrium in both cases and controls. The genotype distribution and allele frequencies of them did not significantly differ between cases and controls (all P〉0.05). In the stepwise logistic regression analysis we failed to observe their association with hypertension. In addition, none of the four estimated haplotypes or diplotypes significantly increased or decreased the risk of hypertension before or after adjustment for several known risk factors.
Conclusions The present study suggests that the SNPs rs482843 and rs1021737 of the CTH gene were not associated with essential hypertension in the Northern Chinese Han population. However, replications in other populations and further functional studies are still necessary to clarify the role of the CTH gene in the pathogenesis of EH. 相似文献
Methods A total of 503 hypertensive patients and 490 age-, gender- and area-matched normotensive controls were enrolled in this study. Based on the FASTSNP, a web server to identify putative functional single nucleotide polymorphisms (SNPs) of genes, we selected two SNPs, rs482843 and rs1021737, in the CTH gene for genotyping. Genotyping was performed by the polymerase chain reaction and restriction fragment length polymorphism method (PCR-RFLP). The frequencies of the alleles and genotypes between cases and controls were compared by the chi-square test. The program Haplo.stats was used to investigate the relationship between the haplotypes and EH.
Results These two SNPs were in Hardy-Weinberg Equilibrium in both cases and controls. The genotype distribution and allele frequencies of them did not significantly differ between cases and controls (all P〉0.05). In the stepwise logistic regression analysis we failed to observe their association with hypertension. In addition, none of the four estimated haplotypes or diplotypes significantly increased or decreased the risk of hypertension before or after adjustment for several known risk factors.
Conclusions The present study suggests that the SNPs rs482843 and rs1021737 of the CTH gene were not associated with essential hypertension in the Northern Chinese Han population. However, replications in other populations and further functional studies are still necessary to clarify the role of the CTH gene in the pathogenesis of EH. 相似文献
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北方汉族人群醛固酮合成酶基因多态性与高血压的关系 总被引:1,自引:0,他引:1
目的 探讨北方汉族人群醛固酮合成酶基因(CYP11B2)启动子区C-344T和第三外显子K173R多态性位点与原发性高血压的关系。方法在哈尔滨报社人群中分别选取182例原发性高血压患者和189例正常对照者进行病例.对照研究,采用多聚酶链式反应/限制性片段长度多态性(PCR—RFLP)及直接测序技术检测C-344T和K173R的基因型。结果各位点基因型分布在男性和女性组中均符合Hardy—Weinberg遗传平衡定律。C-344T位点的基因型和等位基因频率以及K173R的等位基因频率在整个群体和按性别分组后亚群体的分布在高血压组和对照组间差异均没有显著性(P≥0.05)。而K173R位点的基因型频率在整个群体中具有边缘统计学意义(P=0.0500),且在女性组中更为明显(P=0.0038),并以显性方式遗传,这种遗传方式在对混杂因素进行校正后更加明显。同时K173R与女性的收缩压显著相关。结论 在北方汉族人群中,CYP11B2K173R多态性位点与女性高血压的易感相关联。 相似文献
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Hao Y Wu BG Shi J Chen YL Sun ZQ Zheng LQ Zhang XG Geng N Li TJ Li H Sun YX 《中华医学杂志(英文版)》2011,124(14):2113-2116
Background Genetic mechanisms contribute to blood pressure regulation. This study investigated whether glutathione peroxidase (GPx-3) tag single nucleotide polymorphisms (SNPs) are associated with hypertension in the rural areas of Fuxin county, Liaoning province, China.
Methods Indigenous Fuxin Han people participated, 523 unrelated hypertensives and 547 controls were recruited. All tag SNPs of GPx-3 gene were selected. We estimated SNP allele frequency in DNA pools with pyrosequencing.
Results Before Bonferroni correction, C allele frequency for rs8177417 was significantly higher in hypertensives than those in controls (23.4% vs. 19.3%, P=0.014); T allele frequency for rs3828599 was significantly lower in hypertensives than those in controls (35.6% vs. 40.8%, P=0.009). However, when a Bonferroni correction for multiple testing was applied, only the polymorphisms rs3828599 of GPx-3 gene was associated with hypertension (P=0.045, OR: 0.833, 95% CI: 0.695–0.998).
Conclusion The polymorphism of rs3828599 of GPx-3 gene might be associated with hypertension in rural Han Chinese from Fuxin, Liaoning.
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