内源性高甘油三酯血症患者载脂蛋白AⅠ基因MspI酶切位点多态性

探讨中国人内源性高甘油三酯血症患者载脂蛋白AⅠ基因MspI酶切位点变异频率及其对血脂、载脂蛋白水平的影响。应用多聚酶链反应对成都地区汉族 2 5 5例正常人和 134例内源性高甘油三酯血症患者apoAⅠ基因启动子 (- 78bp)及内含子I(+83bp)两个MspI限制性片段多态性进行分析。内源性高甘油三酯血症组及对照组载脂蛋白AⅠ基因MspI的多态性以G/G基因型占优势。载脂蛋白AⅠ基因启动子区MspI酶切位点A等位基因频率内源性高甘油三酯血症组显著高于对照组 (0 .35 0比 0 .2 73,P <0 .0 5 ) ,并显著高于欧美的白种人 (0 .30 0vs 0 .12 0～ 0 .191,P <0 .0 1) ,而 +83bpT等位基因则未见差异。在所研究对象中具有A/A基因型者血清甘油三酯水平、甘油三酯 /高密度脂蛋白胆固醇比值及载脂蛋白CⅢ水平较具有G/G及G/A基因型者显著升高 (P <0 .0 5 ) ,血清载脂蛋白CⅡ水平有增加趋势 (P >0 .0 5 )。载脂蛋白AⅠ基因启动子 (- 78bp)MspI酶切位点的突变与中国人内源性高甘油三酯血症有一定关联 ,载脂蛋白AⅠ基因A/A基因型对血清甘油三酯、载脂蛋白CⅡ水平及甘油三酯 /高密度脂蛋白胆固醇比值的升高有一定影响。     

内源性高甘油三酯血症患者载脂蛋白AⅠ基因MspI酶切位点多态性

探讨中国人内源性高甘油三酯血症患者载脂蛋白AⅠ基因MspI酶切位点变异频率及其对血脂、载脂蛋白水平的影响.应用多聚酶链反应对成都地区汉族255例正常人和134例内源性高甘油三酯血症患者apoAⅠ基因启动子(-78 bp)及内含子I(+83 bp) 两个MspI限制性片段多态性进行分析.内源性高甘油三酯血症组及对照组载脂蛋白AⅠ基因M spI的多态性以G/G基因型占优势.载脂蛋白AⅠ基因启动子区MspI酶切位点A等位基因频率内源性高甘油三酯血症组显著高于对照组(0.350比0.273,P<0.05),并显著高于欧美的白种人(0.300 vs 0.120～0.191, P<0.01),而+83 bp T 等位基因则未见差异.在所研究对象中具有A/A基因型者血清甘油三酯水平、甘油三酯/高密度脂蛋白胆固醇比值及载脂蛋白CⅢ水平较具有G/G及G/A基因型者显著升高(P<0.05),血清载脂蛋白CⅡ水平有增加趋势(P>0.05).载脂蛋白AⅠ基因启动子(-78 bp)MspI酶切位点的突变与中国人内源性高甘油三酯血症有一定关联,载脂蛋白AⅠ基因A/A基因型对血清甘油三酯、载脂蛋白CⅡ水平及甘油三酯/高密度脂蛋白胆固醇比值的升高有一定影响.     

湖南苗族人群载脂蛋白AⅤ基因多态性与血脂的关系

目的研究中国湖南苗族人群载脂蛋白AⅤ基因S19W和SNP4多态性与血脂的关系。方法收集湖南湘西无血缘关系的苗族健康人241例,用聚合酶链反应—限制性片段长度多态性分析S19W和SNP4单核苷酸多态。分析基因型与血脂的关系。结果S19W位点都为56C/C型。SNP4位点具有-12238T/C和T/T和C/C三种基因型,等位基因T、C频率分别为0.45和0.55。苗族-12238T/C型的人群血浆甘油三酯显著高于其他基因型人群(T/C型、T/T型和C/C型分别为2.15±1.52、1.63±0.89和1.41±0.84mmol/L,P<0.05),低密度脂蛋白水平亦显著高于其他基因型人群(T/C型、T/T型和C/C型分别为2.93±0.84、2.44±0.70和2.37±0.85mmol/L,P<0.05)。结论载脂蛋白AⅤ基因S19W位点在湖南苗族健康人群中为非多态性位点。载脂蛋白AⅤ基因SNP4位点在湖南苗族健康人群中为多态性位点,T/C型血浆甘油三酯和低密度脂蛋白水平高于其他基因型。     

中国人内源性高甘油三酯血症与脂蛋白脂酶基因HindⅢ多态性的关系

为了解中国人内源性高甘油三酯血症与脂蛋白脂酶基因多态性是否相关,用聚合酶链反应－限制片长多态性方法对成都地区200例内源性高甘油三酯血症患者及220例血脂正常者脂蛋白脂酶基因HindⅢ酶切位点的多态性及其血脂、载脂蛋白水平进行了研究。结果发现,内源性高甘油三酯血症患者和正常人均以H2H2纯合于基因型为主,内源性高甘油三酯血症组H2等位基因频率较对照组增加（0．855比0．745,P＜0．01）;而H1等位基因频率内源性高甘油三酯血症组则明显低于对照组（0．145比0．255,P＜0．01）。H2H2基因型者血浆甘油三脂、载脂蛋白CⅡ、CⅢ水平、甘油三酯与高密度脂蛋白的比值均显著高于H1H1基因型者（P＜0．01）,比H1H2基因型者有明显增加（P＜0．05）。此结果显示,脂蛋白脂酶基因内含子HindⅢ酶切位点的多态性与中国人内源性高甘油三酯血症有一定的相关性。     

汉族人载脂蛋白A5基因-1131T＞C多态性与2型糖尿病合并冠心病的相关性研究

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.     

载脂蛋白C3基因多态性-482C>T与血浆脂质的关系

目的 研究载脂蛋白C3基因上游调控区内-482C〉T多态性位点与血浆脂质以及载脂蛋白水平的关系。方法应用聚合酶链反应-限制片长多态性方法逐个鉴定每个个体的基因型，并测定其血浆脂质和栽脂蛋白水平。结果 -482T等位基因携带者具有较高的甘油三酯水平（P=0．044）；同时该等位基因的携带者也具有较高的栽脂蛋白C2水平（P=0．017）。结论载脂蛋白C3基因-482C〉T位点和血浆甘油三酯以及其它几种脂蛋白密切相关。     

贵州汉族老年人群载脂蛋白A5基因多态性与2型糖尿病的相关性

目的探讨载脂蛋白A5(Apo A5)基因-1131TC及56CG基因多态性与贵州汉族老年人群2型糖尿病(T2DM)及体内血脂水平的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)结合琼脂糖凝胶电泳技术检测100例健康人及142例T2DM患者Apo A5-1131TC、56CG基因型,并统计等位基因频率分布情况,同时测定所有对象的血脂、血糖水平。结果 1T2DM组和对照组的Apo A5-1131TC位点基因型频率比较差异显著(P=0.006),等位基因频率比较无差异(P=0.349);2对照组和T2DM组的Apo A5-1131C等位基因(TC+CC)携带者的甘油三酯(TG)均明显高于非C等位基因携带者(TT)(P0.05);3未发现Apo A5基因56CG基因多态性。结论 Apo A5-1131TC基因多态性与贵州汉族老年人群T2DM的发病风险有关,携带C等位基因的人群发病风险更高,且C等位基因与TG水平增高有关;未检测出Apo A5基因56CG基因多态性。     

内源性高甘油三酯血症患者载脂蛋白E多态性及血脂、载脂蛋白的含量

为探讨内源性高甘油三酯血症患者载脂蛋白Ｅ多态性及其与血脂和载脂蛋白水平的关系,采用等电聚焦免疫印迹分析法、酶法及单向免疫扩散法,分别对内源性高甘油三酯血症患者及健康受试者的载脂蛋白Ｅ基因型、表型、空腹血脂及载脂蛋白ＡＩ、Ｂ１００、ＣⅡ、ＣⅢ进行了全面分析。结果发现,与对照组比较,内源性高甘油三酯血症患者空腹血清甘油三酯、总胆固醇、载脂蛋白Ｂ１００、ＣⅡ、ＣⅢ、Ｅ水平明显升高（Ｐ＜０．００１）,载脂蛋白ＡＩ明显降低（Ｐ＜０．００１）;对照组与内源性高甘油三酯血症组载脂蛋白Ｅ表型及等位基因频率分布以Ｅ３／３和ε３最高,对照组载脂蛋白Ｅ２亚组血清甘油三酯及载脂蛋白Ｂ１００水平较载脂蛋白Ｅ３或Ｅ４亚组降低（Ｐ＜０．０５）,载脂蛋白Ｅ水平升高（Ｐ＜０．０５）;而在内源性高甘油三酯血症组并未发现类似改变（Ｐ＞０．０５）。以上提示,在正常对照组中,ε２可引起低总胆固醇及高载脂蛋白Ｅ水平,从而发挥抗动脉粥样硬化的作用,而内源性高甘油三酯血症患者该保护作用明显下降或消失。     

冠心病患者载脂蛋白A5基因多态性与冠状动脉病变程度的相关性

目的分析冠心病患者载脂蛋白A5基因多态性与冠状动脉病变程度的关系。方法采用聚合酶链反应—限制片长多态性技术分别对260例经冠状动脉造影确诊为冠心病的研究对象载脂蛋白A5基因-1131T>C和c.553G>T多态性位点基因型进行检测;其冠状动脉病变程度由病变支数及Gensini积分表示。结果冠心病患者载脂蛋白A5-1131CC基因型人群和c.553T等位基因携带者血清甘油三酯水平明显高于-1131T等位基因携带者和c.553GG基因型人群(P=0.016和0.008);不同冠状动脉病变支数组间载脂蛋白A5基因型分布和不同基因型间Gensini积分的差异无统计学意义(P>0.05);冠状动脉病变支数和Gensini积分与糖尿病发病率呈显著正相关(r=0.141和0.143,P均<0.05),而与血清高密度脂蛋白胆固醇水平则呈显著负相关(r=-0.129和-0.164,P均<0.05)。结论冠心病患者载脂蛋白A5基因-1131T>C和c.553G>T多态性与其血清甘油三酯水平存在一定的相关性,但与冠状动脉病变程度无关。     

中国人内源性高甘油三酯血症患者胰岛素受体底物1基因的多态性

为探讨胰岛素受体底物 1基因多态性是否与内源性高甘油三酯血症患者有关联 ,应用多聚酶链反应对成都地区汉族 117例高甘油三酯血症患者及 194例正常对照者胰岛素受体底物 1基因酶切位点的限制性片段长度多态性进行研究。血脂用酶法测定 ,血清载脂蛋白AⅠ、AⅡ、B10 0、CⅡ、CⅢ及E用RID试剂盒测定。结果发现 ,高甘油三酯血症组和正常对照组胰岛素受体底物 1基因均以GG基因型为主 ,其频率分别为 0 .995和 0 .985 (P >0 .0 5 )。高甘油三酯血症组中具有GR基因型者血清载脂蛋白CⅢ水平较具有GG基因型者降低 (P >0 .0 5 )。以上结果提示胰岛素受体底物 1基因G972 R位点多态性与中国人高甘油三酯血症无关联。     

Plasma apoAV levels are markedly elevated in severe hypertriglyceridemia and positively correlated with the APOA5 S19W polymorphism

OBJECTIVE: The recently discovered apoAV is hypothesized to affect triglyceride metabolism by stimulating the lipolysis of triglycerides in VLDL and chylomicrons. We set out to determine the association between increased serum TG levels, plasma apoAV levels, and polymorphism of the APOA5 gene, with specific emphasis on the APOA5 S19W variation. This mutation alters the endoplasmic reticulum signal peptide and is hypothesized to impair apoAV secretion into the circulation. METHODS AND RESULTS: Two haplotype-tagging APOA5 polymorphisms, APOA5 S19W and APOA5 -1131T>C and plasma apoAV levels were determined in a population of patients with severe hypertriglyceridemia (HTG). As compared to a random control population, the allele frequencies of the APOA5 S19W and -1131T>C rare variants were significantly increased in HTG patients. Furthermore, the HTG population exhibited markedly elevated plasma apoAV levels that were positively correlated with serum TG levels. Plasma apoAV levels were positively correlated with occurrence of the APOA5 S19W rare variant. CONCLUSIONS: The increased allele frequencies of the APOA5 S19W and -1131T>C rare variants in the HTG population are in agreement with previous reports. Our data show a positive correlation between apoAV and TG levels. Moreover the finding of a positive association between apoAV levels and the APOA5 S19W rare variant is in disagreement with the hypothesis that this variant is poorly secreted.     

Association between DNA variant sites in the apolipoprotein A5 gene and coronary heart disease in Chinese

The recently discovered apolipoprotein A5 ( APOA5 ) gene has been shown to be important in determining plasma triglyceride levels, a major cardiovascular disease risk factor. We searched for possible associations of the APOA5 gene polymorphisms S19W and -1131T>C with coronary heart disease (CHD) in a Chinese population. A total of 483 Chinese CHD patients and 502 control non-CHD subjects were genotyped by polymerase chain reaction-restriction fragment length polymorphism for these 2 single nucleotide polymorphisms. We found that the minor allele 19W was observed only in CHD patients and not in controls, with allelic frequencies of 0.047 and 0.000, respectively ( P < .000001), and the minor allele -1131C was significantly higher in CHD patients than in controls (0.391 vs 0.299, P < .0001). These results suggest that both the S19W and -1131T>C variations in the APOA5 gene are associated with the CHD and appear to be 2 genetic risk factors for CHD susceptibility in Chinese. Moreover, we found that triglyceride levels were significantly higher in -1131C carriers than in -1131T subjects of the control group and that high-density-lipoprotein cholesterol was decreased in -1131C carriers among CHD patients.     

The -1131T>C polymorphism in the apolipoprotein A5 gene is related to hypertriglyceridemia in Taiwanese aborigines

The prevalence of hypertriglyceridemia, considered to be an independent risk factor for the development of cardiovascular disease, is high in Taiwanese aborigines. This study was undertaken to examine the effect of the -1131T>C polymorphism in the apolipoprotein A5 gene on serum triglyceride levels in female Taiwanese aborigines. This was a cross-sectional study, and a total of 316 unrelated female Taiwanese aborigines were genotyped at the -1131T>C polymorphism in apolipoprotein A5 using the polymerase chain reaction-restriction fragment length polymorphism method. Serum triglyceride > or = 150 mg/dL was defined as the hypertriglyceridemia group and triglyceride < 150 mg/dL was considered to be the control group. The frequency of the minor C allele was significantly higher in the hypertriglyceridemia group (0.53) than in the control group (0.35) (p < 0.001). The frequency of this rare allele was comparable to that in Japanese and Han Chinese, but was higher than that in Caucasians. In a multiple logistic model adjusted for possible confounders, C allele-containing variants were independently associated with greater risks (CT genotype: OR = 3.28, 95% CI = 1.43-7.56; CC genotype: OR = 5.86, 95% CI = 2.15-15.99) of hypertriglyceridemia than the TT genotype (p < 0.01), notably with the CC homozygote exhibiting the greatest risks. The genotype polymorphisms were also associated with serum triglyceride concentrations in a linear fashion (for trend, p < 0.05). Our results indicate that the -1131T>C polymorphism of the Apo A5 gene influences serum triglyceride levels in female Taiwanese aborigines, and that differences exist in the frequency of the C allele among people of various ethnicities.     

动脉硬化性脑梗死患者载脂蛋白A5基因多态性研究

目的研究载脂蛋白A5基因-1131T>C多态性位点各基因型及等位基因分布频率及其与动脉硬化性脑梗死(arteriosclerotic cerebral infarction,ACI)的关系。方法选择221例湖北地区汉族人群(对照组)及90例ACI患者(ACI组),应用聚合酶链反应限制性片段长度多态性对每个个体的基因型进行鉴定。同时,采用酶法和免疫比浊法对研究对象血脂进行检测。结果2组间除性别、年龄、体重指数无显著差异外,其他各项指标(吸烟、收缩压、舒张压、胆固醇、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇、载脂蛋白A1及载脂蛋白B)均有显著差异(P<0.05);ACI组稀有等位基因C携带者甘油三酯水平明显高于C非携带者,2组中TT、TC、CC 3种基因型甘油三酯水平差异有显著性意义(P<0.05);ACI组稀有等位基因C的频率明显高于对照组(χ2=5.568,P=0.018)。结论apoA5-1131C等位基因与ACI患者甘油三酯水平升高有关,其不同基因型及等位基因在湖北汉族人群及ACI患者中的分布不同,可能与该地区人群ACI危险性有关。     

The -1131 T>C and S19W APOA5 gene polymorphisms are associated with high levels of triglycerides and apolipoprotein C-III, but not with coronary artery disease: an angiographic study

High plasma concentrations of triglycerides (TG) and apolipoprotein C-III (ApoC-III) are well-known risk factors for cardiovascular disease. Two variants of the recently discovered APOA5, 1131 C>T and S19W, have been associated with hypertriglyceridemia, whereas their relation with coronary artery disease (CAD) remains controversial. Nine hundred and thirteen angiografically defined patients (669 CAD and 244 CAD-free) were genotyped for APOA5 -1131 C>T and S19W polymorphisms. Carriership of the APOA5 -1131 C allele was identified, by multiple linear regression models, as a significant independent predictor for both TG (standardized beta-coefficient=0.112; p=0.010) and ApoC-III variability (standardized beta-coefficient=0.113; p=0.013). Similarly, APOA5 19W allele carriership was a significant independent predictor for both TG (standardized beta-coefficient=0.113; p=0.007) and ApoC-III variability (standardized beta-coefficient=0.088; p=0.045). Despite the association with at-risk lipid profile, no significant difference was detected in the distribution of both APOA5 gene polymorphisms between subjects with or without CAD. Moreover, homozygous carriers of the APOC3 -455 C, another TG- and ApoC-III raising variant, showed a significant increased risk for CAD (OR 1.90 with 95% CI 1.002-3.62; p=0.049; by multiple logistic regression). Different genotypes, i.e., APOA5 and APOC3 variants, may lead to similar biochemical phenotypes, namely hypertriglyceridemia, but to contrasting clinical phenotypes such as the presence of angiographically proven CAD.     

Effect of SstI polymorphism of the apolipoprotein CIII gene and environmental factors on risks of hypertriglyceridemia in Taiwan aborigines.

BACKGROUND: Hypertriglyceridemia (HTG) is a heterogeneous metabolic disorder. The aim of this study was to examine associations among genetic polymorphisms, SstI polymorphism of apolipoprotein CIII (ApoCIII) and Hind III polymorphism of lipoprotein lipase (LPL), environmental factors and risks of HTG. METHODS AND RESULTS: Two hundred and forty-nine southern Taiwanese aborigines were recruited for a cross-sectional study, which included 90 subjects with triglyceride (TG)>150 mg/dl (HTG) and 159 with TGor=25 (OR=2.22, 95% CI: 1.18-4.16), starchy food consumption>or=3 times/week (OR=1.89, 95% CI: 1.00-3.59) and ApoCIII S2S2 genotype (OR=3.35, 95% CI: 1.10-10.19) were independently (p<0.05) associated with HTG risks. Among ApoCIII S1S1, S1S2 and S2S2 genotypes, ApoCIII and TG concentrations increased (p<0.01) in a dose-responsive manner. CONCLUSIONS: The ApoCIII S2 variant and environmental factors, including education, tribal background, BMI and starchy food intake, modulate the risks of HTG in aboriginal Taiwanese. Interaction between genetic and environmental factors warrants further investigation.     

An apolipoprotein CIII haplotype protective against hypertriglyceridemia is specified by promoter and 3'' untranslated region polymorphisms.

Five DNA polymorphisms were detected in the promoter of the apolipoprotein CIII gene of a type III hyperlipidemic subject with severe hypertriglyceridemia (HTG). The polymorphic sites were C-641-->A, G-630--> A, T-625-->deletion, C-482-->T, and T-455-->C, with the previously reported base at each site designated allele 1 and the variant base designated allele 2. The sites were in strong linkage disequilibrium with each other and with a polymorphic Sst I site in the apolipoprotein CIII 3' untranslated region whose presence (S2 allele) has previously been shown to be associated with HTG. The distribution of haplotypes of the form -625 -482 Sst I among 78 normolipidemic adults and 79 adults with severe HTG was estimated by maximum likelihood analysis. The 211 haplotype was estimated to be 3.8-fold more common in normal subjects than in HTG subjects (estimated proportions, 0.186 and 0.049, respectively). This haplotype was associated with reduced HTG risk (relative risk, 0.28; P = 0.005) when compared with other haplotypes lacking the Sst I site (S1 allele). The 222 haplotype was estimated to be present on 48 of the 54 S2-containing chromosomes observed and was associated with increased risk for HTG (relative risk, 3.14; P < 0.0025). These results support the existence of apolipoprotein CIII promoter/Sst I haplotypes conferring either protection against or susceptibility to severe HTG.     

Association of a DNA polymorphism of the apolipoprotein A-I/C-III/A-IV gene cluster with hypertriglyceridemia in obese people.

Hypertriglyceridemia is frequently associated with obesity. In the general Caucasian population, an association of the uncommon S2 allele of a DNA polymorphism of the apolipoprotein (apo) A-I/C-III/A-IV gene cluster with hypertriglyceridemia has been reported. To assess the risk of hypertriglyceridemia associated with the S2 allele in obesity, lipid status and apo A-I/C-III/A-IV genotypes were studied in 90 unrelated Caucasian obese subjects. Age, body mass index, percentage body fat and waist-hip ratio were comparable between genotypes. The frequency of S1/S2 genotype was 35% in the hypertriglyceridemic group versus 11.4% in the normotriglyceridemic group (P < 0.05). The odds ratio of hypertriglyceridemia was 3.7 for obese subjects with the S2 allele and 26.7% of hypertriglyceridemias could be attributed to the S2 allele. Women with the S1/S2 genotype had also significantly higher VLDL- and LDL-cholesterol concentrations. These results suggest that the S2 allele modulates the effects of obesity on lipoproteins and increases the risk of hypertriglyceridemia when obese.     

醛固酮合酶基因多态性与原发性高血压关系的研究

目的 :探讨醛固酮合酶CYP11B2基因 -344C/T多态性与原发性高血压的相关性。方法 :运用多聚酶链反应—限制性片段长度多态性分析 (PCR RFLP)了解醛固酮合酶CYP11B2基因 -344C/T基因型在原发性高血压患者 (n =10 8,原发性高血压组 )和正常血压患者 (n =14 6 ,对照组 )的分布情况。结果 :等位基因C、T在原发性高血压组和对照组的分布频率分别为 0 2 8,0 72和 0 36 ,0 6 4,基因频率分布符合Hardy Weinberg平衡 ,样本具有群体代表性 ,两组人群的基因型和等位基因频率无明显差异 (P >0 0 5 )。结论 :在中国人群中 ,醛固酮合酶CYP11B2基因 -344C/T多态性与原发性高血压无显著性相关     

RAGE基因-374T/A多态性与中国汉族人群冠状动脉粥样硬化性心脏病的相关性研究

目的观察晚期糖基化终产物受体(receptor of advanced glycation end products,RAGE)基因启动区-374T/A多态性在中国汉人冠状动脉粥样硬化性心脏病(冠心病)人群和对照组人群中的分布特点,并比较两者之间的差异,分析RAGE基因启动区-374T/A多态性与冠心病的相关性。方法应用Tsp509 I限制性内切酶的多聚酶链反应-限制性片断长度多态性(PCR-RFLP)法,检测127例冠心病患者和88例对照组人群的RAGE多态性基因型。结果冠心病组与对照组间RAGE基因-374T/A多态性等位基因频率和基因型频率比较,差异均无统计学意义(P0.05);单因素logistic回归分析提示,AA基因型与冠心病无关联[OR=0.201,95%CI(0.201,4.220),P=0.9 155]。亚组分析显示,非糖尿病冠心病组与非糖尿病对照组RAGE基因-374T/A多态性等位基因频率和基因型频率比较,差异均无统计学意义(P0.05);单因素logistic回归分析提示,AA基因型与非糖尿病冠心病无关联[OR=1.415,95%CI(0.253,7.926),P=0.6 929]。结论 RAGE基因启动区-374T/A多态性可能与中国汉人冠心病的易感性无关联,其AA基因型可能不是中国汉人冠心病的保护因素。