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1.
冠心病患者载脂蛋白A5和载脂蛋白C3基因多态性的研究   总被引:28,自引:0,他引:28  
Bi N  Yan SK  Li GP  Yin ZN  Xue H  Wu G  Chen BS 《中华心血管病杂志》2005,33(2):116-121
目的研究中国北方汉族人群中载脂蛋白A5基因(APOA5)-1131F/C、56C/G多态性和载脂蛋白C3基因(APOC3)-482C/T多态性与冠心病的关系。方法采用聚合酶链反应.限制性片段长度多态性(PCR-RFLP)结合聚丙烯酰胺凝胶电泳(PAGE)技术检测了312例经冠状动脉造影确诊的冠心病患和317例健康对照APOA5-1131T/C、56C/G和APOC3-482C/T多态性基因型和等位基因的分布,同时采用生化方法检测了研究对象的血脂水平。结果冠心病组APOA5-1131C等位基因频率明显高于对照组(39.9%比33.3%,P=0.02)。CC纯合子患冠心病的风险是TT纯合子的1.93倍(95%CI:1.12~3.32),且通过Logistie回归分析发现该相关性独立于性别、年龄、体重指数、吸烟史、高血压糖尿病患病史及血清TC、HDK-C、IDL-C水平;冠心病组CC纯合子的TG水平明显高于TC杂合子,而TT纯合子TG水平最低。虽然APOA5-1131T/C和APOC3—482C/T多态性存在连锁不平衡,但前的作用与后无关。结论APOA5-1131T/C基因多态性对人群血清TG水平有影响,APOA5-1131C等位基因可能与我国北方汉族人冠心病的发生相关联。  相似文献   

2.
目的探讨载脂蛋白A5(APOA5)c.553G>T基因多态性与冠心病痰证的关系。方法运用聚合酶链反应-限制性片段长度多态性分析技术(PCR-RFLP)对湖南地区58例冠心病痰证、51例冠心病非痰证、73例非冠心病痰证患者及74名健康人的APOA5c.553G>T基因型进行检测,同时检测所有研究对象的血脂、血压及体质量指数。结果 256例受检者中,APOA5c.553G>T位点GG型221例(86.33%),GT型35例(13.67%),TT型0;G等位基因频率93.16%,T等位基因频率6.84%。c.553GT型血清TG水平明显高于GG型。病例-对照研究提示c.553T等位基因是冠心病痰证发生的危险因素,但多因素Logistic回归分析不支持c.553T是上述病证发生的独立危险因素。结论 APOA5c.553G>T基因多态性不是冠心病痰证的独立危险因素,c.553GT基因型可能与血清三酰甘油水平升高有关。  相似文献   

3.
目的探讨载脂蛋白A5(Apo A5)基因c.553G/T位点多态性与遵义汉族人群高胆固醇血症(HTC)的相关性。方法采用聚合酶链反应限制性片长多态性(PCR-RFLP)技术检测并分析101例HTC患者和118例正常对照者Apo A5基因c.553G/T位点多态性。结果两组中Apo A5基因c.553G/T位点基因型频率差异有统计学意义(P0.05),Apo A5 c.553T基因在HTC患者组中的分布频率明显高于正常对照组(P0.05),对HTC有独立影响(OR=4.685,95%CI:1.269~17.296,P=0.020);各血脂指标比较更进一步验证血脂指标比值比单相血脂检测更具临床意义。结论 Apo A5 c.553G/T位点多态性与遵义汉族人群HTC发病存在相关性;Apo A5 c.553T等位基因可能是HTC的独立危险因素。  相似文献   

4.
目的:探讨APOA5基因-12238T>C多态性与高脂血症及冠心病(CAD)的相关性。方法:采用聚合酶联反应-限制性片段长度多态性分析,对195例冠心病患者(CAD组)和181例正常人(正常对照组),检测SNP4(-12238T>C)位点基因多态性,同时测量血脂水平。结果:SNP4的T/C单核苷酸多态位点等位基因T、C频率在CAD组和正常对照组分别为0.431、0.569和0.384、0.616。等位基因频率和基因型频率分布均符合Hardy-Wein-berg平衡定律。等位基因T和C在两组间经Logistic回归分析校正性别、年龄、血清TC、HDL-C、LDL-C、APOA5SNP3位点基因型影响后,两组无统计学意义(P>0.05)。冠心病亚组分析SNP4的TC型较TT和CC型血浆TG、TC水平明显升高(P<0.05),HDL-C、LDL-C水平无显著性差异(P>0.05)。结论:APOA5基因-12238T>C单核苷酸多态性变化与血浆TG、TC升高密切相关,-12238T>C变异通过影响血脂代谢水平增加冠心病的易患性。  相似文献   

5.
目的 探讨遵义人群载脂蛋白A5(ApoA5)基因c.553G/T位点多态性与混合型高脂血症的相关性.方法 收集222名遵义地区人群静脉血标本,其中混合型高脂血症组100例,正常对照组122名,用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测两组标本ApoA5基因c.553G/T位点多态性,分析混合型高脂血症组和正常对照组中基因型频率和基因频率分布规律,及其与混合型高脂血症的关系.结果 ApoA5 c.553G/T位点基因型频率和基因频率在混合型高脂血症组与正常对照组差异有统计学意义(x2=12.081,P=0.001;x2=17.469,P<0.001);通过Logistic回归校正年龄、性别、血糖后,T等位基因携带者(TT+ GT基因型)患高脂血症的风险较GG基因型携带者增加(OR=6.042,95%CI:1.962~18.607,P=0.002).结论 ApoA5 c.553G/T位点多态性与遵义地区人群混合型高脂血症发病存在一定相关性,ApoA5 c.553T等位基因可能是混合型高脂血症的独立危险因素.  相似文献   

6.
目的探讨染色体12p13上的rs12425791多态性与老年人血脂代谢的相关性。方法运用Taq Man基因分型技术,对143例60岁以上老年人的rs12425791遗传多态性进行基因分型,并同时检测血清总胆固醇(TC)、甘油三酯(TG)、低密度脂蛋白胆固醇(LDL)、高密度脂蛋白胆固醇(HDL)水平。结果不同rs12425791基因型或等位基因携带者在TC、TG、LDL、HDL水平上的差异均无统计学意义(P>0.05)。不同基因型或等位基因携带者在TC、TG、LDL升高,HDL降低异常率上的差异也均无统计学意义(P>0.05)。结论 rs12425791与老年人的血脂代谢无相关性。  相似文献   

7.
目的探讨整合素α2(ITGA2)基因c807T多态性与脑梗死的关系及其对血脂、载脂蛋白水平的影响。方法选择住院的脑梗死患者150例为脑梗死组,另选健康体检者170例为对照组。应用PCR-RFLP方法检测两组ITGA2的基因型;同时按常规方法测定血脂和载脂蛋白水平。结果与对照组比较,脑梗死组患者TC、TG、LDL-C水平明显升高(P<0.05),ITGA2基因C807T多态性在两组人群中的分布差异有统计学意义(P<0.05),T等位基因携带者患脑梗死的风险是C等位基因的1.690倍(OR=1.690.95%CI:1.219~2.341),携带T等位基因的脑梗死个体TC水平明显高于不携带者(P<0.05)。结论 ITGA2基因C807T多态性与脑梗死发病有相关性,其中T等位基因可能是脑梗死的遗传易感基因;ITGA2基因C807T多态性可能通过影响血脂水平而影响脑梗死的发生。  相似文献   

8.
目的研究血小板内皮细胞黏附分子-1(PECAM-1)基因Leu125Val(C/G)基因型和等位基因频率分布的遗传背景,探讨PECAM-1基因多态性与湖北地区汉族人冠心病患者的关系。方法选择1 325例湖北地区汉族人为研究对象,分为冠心病组(600例)和正常对照组(725例),采用PCR-RFLP方法检测空腹血清总胆固醇(TC)、甘油三酯(TG)、低密度脂蛋白(LDL)、高密度脂蛋白(HDL)、血压、身高、体重及腰围(WC)等临床参数,并计算体重指数(BMI)。结果冠心病组PECAM-1基因GG基因型频率(42.0%)高于正常对照组(20.3%,P<0.01)。与正常对照组比较,冠心病组G等位基因频率(60.6%)明显升高,而C等位基因频率(39.4%)明显降低,冠心病组G等位基因型携带者TC、TG、LDL、收缩压水平显著高于C等位基因型携带者(P<0.05),但HDL水平低。冠心病组PECAM-1基因Leu125Val(C/G)多态性与WC、BMI、舒张压和体重无关。结论PECAM-1基因Leu125Val(C/G)多态现象与湖北地区汉族人冠心病有关,可能是冠心病遗传危险因素之一。  相似文献   

9.
李长贵  杨乃龙 《山东医药》2002,42(17):16-18
为探讨 PAI- 1基因启动子区 4 G/ 5 G基因多态性、一氧化氮合酶 (e NOS)第 4内含子 2 7bp插入 /缺失 (a/b)多态性与糖尿病肾病 (DN)的相关性 ,采用发色底物法测定 PAI- 1活性 ;等位基因特异性引物 PCR扩增技术测定 PAI- 1基因 4 G/ 5 G多态性 ;聚合酶链反应测定 e NOS基因第 4内含子 2 7bp的 a/ b多态性。结果显示 ,Hb A1c、SBP、TC、e NOS基因第 4内含子 a/ b多态均属 DN的独立危险因素。早期糖尿病肾病组 (DN+组 ) a等位基因及 ab基因型频率显著高于糖尿病非肾病组 (DN-组 ) (P<0 .0 5 )。DN+组血浆 PAI- 1活性明显高于 DN-组 (P<0 .0 5 ) ;4 G纯合子组 PAI- 1活性明显高于 4 G/ 5 G杂合子及 5 G纯合子组 (P<0 .0 0 5 )。2型糖尿病患者中 ,4 G纯合子和a/ b杂合子携带者 DN的相对风险明显增加 (P<0 .0 5 ) ,4 G杂合子携带者 DN的相对风险增加不明显 (P>0 .0 5 )。当 a/ b杂合子和 4 G纯合子基因多态并存时 DN的发病风险明显增加。认为 PAI- 1基因启动子区 4 G/ 5 G基因多态、e NOS基因第 4内含子 a/ b多态与 DN的发生、发展有关。两种基因多态同时存在时 ,DN的发病风险明显增加  相似文献   

10.
目的 探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T位点的多态性与广西红水河流域长寿人群的血脂水平及长寿的关系.方法 应用聚合酶链反应—限制性片段长度多态性(PCR-RFLP)方法对505例该流域90岁以上壮族长寿老人(长寿组)、普通健康壮族中老年人468例(非长寿组)进行基因分型,并检测血压、体质指数、血脂(TC、TG、HDL、LDL)等指标.结果 长寿组和对照组C、T等位基因频率分别为80.2%、19.8%和85.0%、15.0%;两组3种基因型(CC、CT、TT)频率分别为65.5%、29.3%、5.2%和73.9%、22.2%、3.8%;等位基因及基因型频率在两组间差异显著,且有T等位基因在长寿组女性中富集现象,而男性中无此趋势.在血脂水平上除HDL外,长寿组的TC、TG、LDL水平显著高于非长寿组(P<0.01).进一步按MTHFR C677T基因型和性别分层后发现,长寿组中女性突变基因型(CT/TT)的TC、TG及LDL水平明显高于非突变基因型(CC);而男性各血脂水平分别在两组3种基因型间未发现有明显差异.结论 MTHFR基因C677T位点的多态性与血脂水平及长寿有一定的关系,并呈性别特异性,可能是红水河流域长寿现象的分子遗传学基础之一.  相似文献   

11.
Tang Y  Sun P  Guo D  Ferro A  Ji Y  Chen Q  Fan L 《Atherosclerosis》2006,185(2):433-437
Elevation in plasma triglycerides (TG) has been widely accepted as a coronary artery disease (CAD) risk predictor. Recently, a new apolipoprotein playing an important role in TG metabolism named apolipoprotein AV (apoAV) was discovered, which is encoded by the APOA5 gene. Several single nucleotide polymorphisms (SNPs) of APOA5 associated with increased TG concentrations have been identified. We here report that a recently identified genetic variant, c.553G>T in the APOA5 gene which causes a substitution of a cysteine for a glycine residue at amino acid residue 185(G185C) is also associated with increased TG levels. To investigate the association between this genetic variation and the risk of CAD, a case-control study comprising 232 patients with CAD and 302 controls from the same area of China was performed. The minor allele frequencies of c.553G > T for the CAD and control groups were 7.76 and 3.97%, respectively (P = 0.008). In both the CAD and control groups, the T allele carriers had higher serum TG levels than homozygous carriers of the major G allele (CAD group: 2.67 +/- 1.48 mmol/l versus 1.95 +/- 1.02 mmol/l, P = 0.021; controls: 2.31 +/- 1.20 mmol/l versus 1.68 +/- 0.95 mmol/l, P = 0.002). After adjustment for age, gender, body mass index, smoking status, glucose and presence of hypertension, the odds ratio (OR) for CAD in the T allele carriers was 2.089 (95% CI = 1.140-3.830, P = 0.017), in comparison to the individuals without the T allele. These results suggest that the APOA5 c.553G > T polymorphism is an important predictor for hypertriglyceridemia and CAD.  相似文献   

12.
Hsu LA  Ko YL  Chang CJ  Hu CF  Wu S  Teng MS  Wang CL  Ho WJ  Ko YS  Hsu TS  Lee YS 《Atherosclerosis》2006,185(1):143-149
Recently, a T/C polymorphism of the promoter region of the APOA5 gene at position -1131 and a G/T polymorphism at position 553 were found to be associated with increased levels of plasma triglyceride. Triglyceride plays a role in coronary artery disease (CAD), so this case-control study tested for a possible link between these two APOA5 polymorphisms, their common haplotypes and the risk of CAD. The subjects included 211 CAD patients and 677 unrelated controls. A significantly higher level of triglycerides and a lower level of high-density lipoprotein cholesterol (HDL-C) were noted for carriers with -1131C than for non-carriers (P<0.001 and 0.013, respectively) among controls. Plasma triglyceride levels were significantly higher (P=0.014) in controls with genotypes that contained the c.553T allele than in homozygotes for the G allele. Subjects homozygous for the wild-type haplotype had significantly lower triglyceride levels and higher HDL-C levels than subjects with all other haplotype pairs. The -1131C homozygous carriers and c.553T heterozygous carriers were found more frequently in 211 patients with CAD than in the 317 age/sex-matched controls (P=0.008 and 0.023, respectively) in univariate analysis. The significant association between c.553T allele carriers with CAD remained in multivariate regression analysis (OR, 1.79; CI, 1.07-3.00; P=0.028), after adjustments were made for other risk factors. Notably, haplotype analysis further verified that the APOA5 -1131C and c.553T bi-loci haplotype was significantly overpresented in CAD, as compared to the controls. These results indicate that the variants of APOA5 gene modulate plasma triglyceride and may use them to predict CAD susceptibility in Taiwanese Chinese.  相似文献   

13.

Background and aims

Apolipoprotein (APO) A5 gene polymorphisms have been associated with increased plasma triglyceride (TG), but the results are inconsistent. The present study was undertaken to detect the APOA5 gene polymorphisms and their associations with lipid profiles in the Guangxi Hei Yi Zhuang and Han populations.

Methods and results

Genotyping of the APOA5 −1131T>C, c.553G>T and c.457G>A was performed in 490 subjects of Hei Yi Zhuang and 540 participants of Han Chinese aged 15-89 years. The −1131C allele frequency was higher in high total cholesterol (TC) than in normal TC subgroups in both the ethnic groups (P < 0.05). The c.553T allele frequency was higher in high TG than in normal TG subgroups (P < 0.01), in high APOB than in normal APOB subgroups in Hei Yi Zhuang (P < 0.05), or in females than in males in Han (P < 0.01). The c.457A allele frequency in Han was higher in high TG than in normal TG subgroups, in low APOA1 than in normal APOA1 subgroups, in males than in females, or in normal APOB than in high APOB subgroups (P < 0.05-0.01). The levels of TC, low-density lipoprotein cholesterol and APOB in Hei Yi Zhuang were correlated with −1131T>C genotype or allele, and the levels of TG were associated with c.553G>T genotype (P < 0.05). The levels of TG, APOA1 and APOB in Han were correlated with c.457G>A genotype or allele, and the levels of TC were associated with −1131T>C allele (P < 0.05).

Conclusions

The differences in the lipid profiles between the two ethnic groups might partly result from different APOA5 gene-environmental interactions.  相似文献   

14.
目的 研究黑龙江省东部地区汉族人群前蛋白转化酶枯草溶菌素(PCSK)9基因第1外显子多态性与脂代谢的相关性.方法 因心绞痛和(或)运动试验阳性及有冠脉管腔狭窄证据而需入院行冠状动脉造影者220例中,110例冠心病(CHD)者为病例组,110例非CHD者为对照组,检测PCSK9基因第1外显子基因多态性及血脂水平,并对基因多态性与血脂水平进行相关性分析.结果 共发现c.121C>G、c.299C>T、c.427-428insGCT、A53V、P56S和c.556A>G 6个突变位点,其中在A53V突变位点上发现CC和TC两种基因型,但未发现TT基因型.病例组和对照组各基因型间血清三酰甘油(TG)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDL-C)和低密度脂蛋白胆固醇(LDL-C)水平差异具有统计学意义(P<0.05).病例组中TC基因型血清TG、TC和LDL-C水平均显著高于CC基因型(P<0.05);对照组中TC基因型血清TC水平显著高于CC基因型(P<0.05).结论 PCSK9基因第1外显子在黑龙江省东部地区汉族人群中存在多态性,且与CHD患者脂代谢有关.  相似文献   

15.
目的:探讨联合应用辛伐他汀和非诺贝特对急性冠脉综合征(ACS)患者血脂参数及炎症因子的影响。方法:共人选58例ACS患者.随机分为:辛伐他汀组(20mg/d,18例);非诺贝特组(200mg/d,18例);联合治疗组(辛伐他汀20rag/d+非诺贝特200mg/d,22例),疗程均为6个月。观察治疗前、后血清总胆固醇(TC)、低密度脂蛋白胆固醇(LDL-C)、甘油三酯(TG)、高密度脂蛋白胆固醇(HDL—C)、一氧化氮(NO)、内皮素(ET)和C反应蛋白(CRP)含量的变化,以及药物不良反应。结果:各组治疗后血清TC、LDL-C、TG水平显著降低(P均〈0.05),血清HDL—C水平有不同程度增高。其中以联合治疗组最为明显(P均〈0.05)。和辛伐他汀组相比,非诺贝特组TC和LDL-C水平无明显差异(P〉0.05),而TG水平显著降低,HDL—C水平明显增高(P〈0.05),与治疗前相比,各组治疗后血清NO水平增高,CRP和ET水平降低(P〈0.05),联合治疗组较辛伐他汀组、非诺贝特组更显著(P均〈0.05),三组均无不良反应。结论:联合辛伐他汀和非诺贝特治疗可以更全面地改善ACS患者的血脂异常,其改善内皮功能和降低炎症因子的作用较单药治疗更有效。  相似文献   

16.
ObjectiveTo explore the relation between K469E gene polymorphism of intercellular adhesion molecular–1 (ICAM–1) and the recurrence of ACS and cardiovascular mortality.MethodsA total of 185 patients with ACS hospitalized in Department of Cardiology in our hospital from Sep 2007 to Sep 2008 were selected as objectives. Polymerase chain reaction was used to analyze K469E gene polymorphism of ICAM–1. According to the genotypes, they were divided into two groups: group with K allele (KK+KE) and group without K allele (EE). The two groups were followed up prospectively for five years and blood lipid, blood pressure, blood glucose, recurrence and death of ACS were collected when the patients left hospital. The relation between ICAM–1 gene polymorphism and the recurrence of ACS and cardiovascular mortality was analyzed by Logistic regression.ResultsAfter long–term follow–up, it was found that ACS recurred on 71 cases (38.4%) and 10 cases died, among which 3 cases died of cardiovascular disease. The recurrence of ACS and cardiovascular mortality in group with K allele were remarkably higher than that in group without K allele (P<0.01). After multivariate Logistic regression adjusted ages, gender, weight indexes, TC, LDL–C, TG, smoking, drinking, family history of cardiovascular disease, history of hypertension and the severity of coronary artery disease, the risks of ACS recurrence and cardiovascular mortality in group with genotype KK+KE was 3.31 and 3.53 times of those in group with genotype EE respectively (P<0.01). When the independent variable of hypertension was introduced in regression analysis, the risks of ACS recurrence and cardiovascular mortality in group with K allele both decreased (P<0.05). When the independent variable of HDL–C was introduced, different genotypes of ICAM–1 weren't relevant with ACS recurrence and cardiovascular mortality (P>0.05).ConclusionsK469E gene polymorphism of ICAM–1 was related to ACS recurrence and cardiovascular mortality, K allele probably an independent risky factor and hypertension and to which the level of HDL–C were closely related.  相似文献   

17.
This study examined the associations of the APOA5 T-1131C (rs662799), G553T (Cys185Gly, rs2075291), GCK G-30A (rs1799884), GCKR A/G at intron 16 (rs780094) and T1403C (Leu446Pro, rs1260326) polymorphisms with serum lipid and glucose levels in Japanese, considering lifestyle factors. Study subjects were 2,191 participants (aged 35-69 years, 1,159 males) enrolled in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study. Dyslipidemia was defined as fasting serum triglycerides (FTG) ≥ 150 mg/dL and/or HDL-cholesterol (HDL-C) < 40 mg/dL, while dysglycemia was as fasting blood sugar (FBS) ≥ 110 mg/dL. When those with APOA5 -1131 T/T or 553 G/G were defined as references, those with APOA5 -1131 T/C, C/C or 553 G/T, T/T demonstrated significantly elevated risk of dyslipidemia (age- and sex-adjusted odds ratio: 1.77 [95% confidence interval:1.39-2.27], 3.35 [2.41-4.65], 2.23 [1.64-3.02] and 13.78 [3.44-55.18], respectively). Evaluation of FTG, HDL-C or FBS levels according to the genotype revealed that FTG and HDL-C levels were significantly associated with the APOA5 T-1131C and G553T polymorphisms, FTG with the GCKR rs780094 and rs1260326 polymorphisms, and FBS with the GCKR rs780094 and rs1260326 polymorphisms. Moreover, a significant positive interaction between APOA5 553 G/T+T/T genotypes and fat intake ≥ 25% of total energy for the risk of dyslipidemia was observed. Our cross-sectional study confirmed the essential roles of the polymorphisms of the APOA5, GCK and GCKR in the lipid or glucose metabolism disorders, and suggested the importance of fat intake control in the individualized prevention of dyslipidemia.  相似文献   

18.
目的 探讨我国北方地区汉族人载脂蛋白A5基因(APOA5)-1131T>C多态性对血脂的影响及其与2型糖尿病合并冠心病的关系.方法 应用聚合酶链反应限制性片段长度多态性(PCR-RFLP)技术检测了136例健康对照者、163例2型糖尿病患者(DM组)和114例经冠状动脉造影确诊的2型糖尿病合并冠心病患者(DM+CHD组)APOA5-1131T>C多态性基因型和等位基因频率分布,同时检测了研究对象的血脂、脂蛋白和载脂蛋白水平.结果 健康对照组APOA5-1131T>C多态性与血清甘油三酯(TG)水平密切相关,C等位基因携带者TG水平明显高于TT基因型(1.38比0.91 mmol/L,P<0.001).2型糖尿病合并冠心病组APOA5-1131C等位基因频率明显高于对照组(38.4%比28.3%,P=0.023),TT、TC、CC基因型频率在DM+CHD组和对照组分别为33.9%、55.4%、10.7%和50.4%、42.5%、7.1%,两组间差异具有统计学意义(P<0.05).而2型糖尿病组和对照组相比,APOA5-1131T>C多态性基因型频率和等位基因频率分布均无差异.结论 APOA5-1131T>C多态性对人群TG水平有极显著影响,C等位基因与2型糖尿病合并冠心病的患病风险有一定关系.  相似文献   

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