汉族人群载脂蛋白(a)五核苷酸重复序列基因多态性对血脂水平的影响

目的:了解健康湖北汉族人群载脂蛋白(a)五核苷酸重复序列(pentanucleotiderepeat,PNR)基因多态性并分析其对血清脂质的影响。方法:随机选取153例健康湖北汉族受试者,测定其血清胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C),载脂蛋白AI(apoAⅠ)、载脂蛋白B(apoB)及脂蛋白(a)的浓度,并采用PCR-SSCP的方法检测载脂蛋白(a)PNR基因多态性,计算各等位基因的分布频率。结果:我国汉族人群apo(a)PNR等位基因频率分布与欧美人群有显著性差异,apo(a)PNR(TTTTA)5等位基因与高Lp(a)水平相关,apo(a)PNR等位基因变异对TC、TG、HDL-C、LDL-C、ApoAI和ApoB无明显影响。结论:本研究获得了湖北健康汉族人群的血脂及apo(a)PNR等位基因分布的资料,apo(a)PNR(TTTTA)5等位基因与汉族人群高Lp(a)水平有关。     

冠状动脉粥样硬化性心脏病患者载脂蛋白(a)五核苷酸重复序列基因多态性的初步研究

目的　探讨载脂蛋白 (a) [apolipoprotein(a) ,apo(a) ]五核苷酸重复序列 (pentanucleotiderepeats,PNR)基因多态性与中国汉族人冠状动脉粥样硬化性心脏病 (简称冠心病 )发病的关系。方法　应用聚合酶链反应结合聚丙烯酰胺凝胶电泳和硝酸银染色 ,对 15 3名中国汉族正常人和 16 5例冠心病患者apo(a) PNR基因多态性进行了分析。结果　冠心病组 apo(a) PNR(TTTTA) 5/8基因型频率 (0 .188)和(TTTTA) 5等位基因频率 (0 .115 )显著高于正常对照组 (0 .0 39,0 .0 2 6 ) ,差异有显著性 (P <0 .0 1,P<0 .0 5 )。结论　apo(a) PNR基因多态性与人群易患冠心病有关 ,可能在一定程度上参与了冠心病的发生和发展过程。     

载脂蛋白E多态性与脑梗死及脂类代谢关系的研究

目的:探讨载脂蛋白E(ApoE)多态性与脑梗死及脂类代谢的关系。方法:缺血性脑梗死组110例,健康对照组60例。ApoE表型采用等电聚焦(IEF)电泳及免疫印迹(Westernblotting)技术测定,血清总胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白胆固醇(HDL-C)采用酶法测定,低密度脂蛋白胆固醇(LDL-C)按Fridwald公式计算,ApoAⅠ、ApoB用火箭电泳法测定,ApoE、脂蛋白(a)用ELISA法测定。结果:脑梗死组ApoEε4等位基因表达显著高于对照组(P＜0.05);脑梗死组TC、TG、LDL-C、ApoB、ApoE、Lp(a)水平显著高于对照组(P＜0.05或P＜0.01),ApoAⅠ、HDL-C显著低于对照组(P＜0.05);脑梗死组各等位基因(ε2、ε3、ε4)之间血脂水平比较;含ε4等位基因者,TC、LDL-C、ApoB、Lp(a)水平高于含ε3者(P＜0.05),HDL-C、ApoAⅠ较低(P＜0.05);含ε2等位基因者,TG、HDL-C、ApoAⅠ、ApoE高于含ε3者(P＜0.05),TC、LDL-C、ApoB较低(P＜0.05)。结论:ApoEε4等位基因与脑梗死发病有关,ε2、ε4等位基因与脑硬死患者的脂类代谢改变有关。     

载脂蛋白(a)启动子-418A/G位点和-384C/T位点单核苷酸多态性的研究

目的:研究载脂蛋白(a)启动子区-418位点和-384位点的单核苷酸多态性(SNP),比较种族间单核苷酸的基因型频率分布差异,探讨它们对血脂的影响及同冠状动脉疾病(CHD)的相关性。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的分析方法,检测了中国湖北汉族人群无血缘关系的156名健康者及56例CHD患者和65例无血缘关系的非洲贝宁黑种人的Apo(a)启动子-418位点、-384位点单核苷酸的基因型,并对作为酶切底物的PCR产物进行了T-载体法克隆测序。同时,测定血清脂蛋白(a)、总胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)、ApoAI及ApoB浓度。结果:(1)在对照组中Apo(a)启动子区-418位点只存在等位基因A,未见等位基因G,只有AA基因型,-384位点只存在等位基因C,未见等位基因T,仅有CC基因型;CHD组中,-418位点仅检出1例突变型(GG型),-384位点只有CC型,未发现突变基因T。(2)贝宁黑种人组中,-418位点检出两例突变型(GG型),其他均为AA基因型;-384位点只存在等位基因C,也未发现突变基因T,只有CC基因型。(3)测序结果表明对照人群中Apo(a)基因启动子区(-541--341)序列与GenBank所公布的序列是一致的,并且-418位点碱基为A,-384位点碱基为C。结论:汉族人群中Apo(a)基因启动子区-418位点和-384位点碱基突变率较低,不构成单核苷酸多态性(SNP),与脂质水平及CHD未显示相关性;贝宁黑种人-418位点具有多态性;在种族间的SNP可能存在着较大的差异。     

检测血脂及血清ApoB/ApoA1比值对冠状动脉粥样硬化临床诊断意义

目的 探究血脂及血清生化指标载脂蛋白B(ApoB)与载脂蛋白A(ApoA1)比值ApoB/ApoA1在冠状动脉粥样硬化临床诊断中的应用价值.方法 选取我院2018年3月至2019年10月收治的冠状动脉粥样硬化患者98例为观察组,同期于我院健康体检者102例为对照组.检测两组研究对象血脂及血清生化指标,分析ApoB/ApoA1及血脂相关生化指标数据.结果 观察组患者的TG、TC、LDL-C、Lp(a)、LDL-C/HDL-C比值均明显高于对照组,HDL-C明显低于对照组,差异均具有统计学意义(P<0.05).观察组血清ApoB及ApoB/ApoA1比值均明显高于对照组,ApoA1明显低于对照组,差异均具有统计学意义(P<0.05).ApoB/ApoA1比值与TG、TC、LDL-C、Lp(a)及LDL-C/HDL-C呈统计学正相关(r值分别为0.328、0.441、0.615、0.331、0.569,P<0.05);与HDL-C呈统计学负相关(r=-0.572,P<0.05);与LDL-C、HDL-C、LDL-C/HDL-C比值呈较强相关性(P<0.05).多元线性逐步回归分析显示ApoB/ApoA1与Lp(a)、LDL-C/HDL-C一致为冠状动脉粥样硬化危险因素(P<0.01),且均与冠状动脉粥样硬化成正相关.结论 ApoB/ApoA1比值可为冠状动脉粥样硬化的临床诊断生物标志物,可对冠状动脉粥样硬化的诊疗提供参考.     

中国汉族人群极低密度脂蛋白受体基因多态性与血脂水平的相关性研究

目的 :对中国汉族人群极低密度脂蛋白受体 (VLDL R )基因CGG重复序列多态性与血脂水平及心脑血管病的相关性进行研究。方法 :检测湖北地区 75例冠心病 (CHD)、65例动脉粥样硬化性脑梗死 (ABI)和 160例正常人CGG重复序列 ,并分析各组血脂水平。结果 :共检出CGG重复次数为 5、8、9、11的 4种等位基因及 5 /5、5 /8、8/8、8/9、9/9、5 /9、8/11、5 /11等 8种基因型。CHD组与对照组、ABI组与对照组比较 ,VLDL R等位基因频率以及基因型频率分布无统计学差异 (P >0 .0 5 )。在CHD组和ABI组中 ,五个亚组间TC、TG、HDL -C、LDL -C、ApoAⅠ、ApoB及Lp(a)水平均无显著性差异 (P >0 .0 5 )。结论 :VLDL R基因多态性与人群中的血脂水平无关联 ,与心脑血管病 (CCVD)也没有关联。     

浙江汉族长寿人群血脂水平及ApoB基因Xba I-RFLP和3'-VNTR多态性的相关性研究

 目的：研究浙江汉族长寿人群的血脂水平及载脂蛋白B（ApoB）基因Xba I-限制性片段长度多态性(RFLP)和3’-可变数目串联重复序列(VNTR)多态性对血脂四项和载脂蛋白水平是否有影响,了解长寿发生的机制。方法：采用体格检查与实验室研究分别对长寿老人组、长寿子女组、正常对照组和非长寿子女组进行血样采集、ApoB基因Xba I-RFLP和3'-VNTR分型。结果：血清甘油三酯（TG）、低密度脂蛋白胆固醇（LDL-C）及ApoB 与长寿呈负相关（P<0.05）, 高密度脂蛋白胆固醇（HDL-C）与长寿呈正相关（P<0.01）。拥有X⁺X^-基因型的人,除TG外,TC、LDL-C及ApoB均高于拥有X^-X^-基因型的人（P<0.01）,其HDL-C低于拥有X^-X^-基因型的人（P<0.01）;拥有大等位基因的人,其TC、TG、LDL-C及ApoB均高于拥有小等位基因的人（P<0.01）,而HDL-C含量较低（P<0.01）。结论：高TG、LDL-C、ApoB和低HDL-C不利于长寿,拥有X^-X^-基因型和3'-VNTR分型小等位基因的人血脂水平较健康,也利于长寿。     

补阳还五汤加减治疗冠心病对血脂和雌二醇代谢的影响

目的:探讨补阳还五汤加减治疗冠心病血脂和雌二醇(E2)代谢的变化。方法:49例冠心病患者服用补阳还五汤加减治疗两个月,应用酶法检测治疗前后的总胆固醇(TC)、甘油三脂(TG),均相酶法检测高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C),免疫透射比浊法检测载脂蛋白A1(ApoA1)和载脂蛋白B(ApoB),化学发光免疫法检测雌二醇(E2)。结果:治疗后TC、LDL-C、ApoB降低,ApoA1升高,与治疗前比较差异有显著性意义(P<0.05),TG、HDL-C、E2治疗前后比较无统计学差异(P>0.05)。结论:补阳还五汤加减治疗冠心病有助于改善血脂代谢。     

血糖、血脂水平与糖尿病视网膜病变患者视力损害的相关性研究

目的探讨血糖、血脂水平与糖尿病视网膜病变患者视力损害的相关性。方法选取2016年1月至2018年1月我院内分泌科收治的250例DR患者进行研究。根据视力分级标准分为三个组:盲组(n=28),低视力组(n=80),低视力以上组(n=142)。比较各组患者FPG、HbAlC、TC、TG、LDL-C、HDL-C、LDL-C/HDL-C、ApoB、ApoA1、ApoB/ApoA1水平,对FPG、HbA1C、LDL-C/HDL-C及ApoB/ApoA1与DR患者视力损害进行Pearman相关性分析和Logistic回归分析。结果三组患者的TC、TG差异均无统计学意义(P>0.05);与低视力以上组相比,盲组和低视力组FPG、HbAlC、LDL-C、LDL-C/HDL-C、ApoB、ApoB/ApoA1更高,HDL-C、ApoA1更低(P<0.05);盲组FPG、HbAlC、LDL-C、LDL-C/HDL-C、ApoB、ApoB/ApoAl显著高于低视力组,HDL-C、ApoA1显著低于低视力组(P<0. 05)。经Spearman相关性分析,FPG、HbAlC、LDL-C/HDL-C、ApoB/ApoA1比值与DR患者视力损害均呈正相关。经Logistic回归分析,FPG、HbAlC、LDL-C/HDL-C、ApoB/ApoA1均是DR患者视力损害的独立危险因素。结论 FPG、HbAlC、LDL-C/HDL-C、ApoB/ApoA1与DR患者的视力损害有密切关系,通过监测这些指标有利于DR患者视力损害的预测,及时采取治疗措施。     

脑梗死患者高压氧治疗前后的血脂及血液流变学指标分析

目的:观察脑梗死患者血脂及血液流变学指标在高压氧(HBO)治疗前后的变化,探讨HBO治疗脑梗死疗效及机理。方法:将脑梗死患者(54例)随机分为HBO治疗(HBO组)和常规药物治疗(对照治疗组)两组,同时设立一健康对照组(60例)。所有对象均检测血浆甘油三酯(TG)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)、脂蛋白a[LP(a)]、载脂蛋白A1(ApoA1)、载脂蛋白B(ApoB)水平及血液流变学相关指标,并作统计学分析。结果:脑梗死组与健康对照组比较,TC、TG、LDL-C、LP(a)明显升高(P<0.01),HDL-C明显降低(P<0.01),血液流变学6项指标均显著高于健康对照组(P均<0.01)。经治疗后,HBO治疗组血液流变学所有指标明显下降(P<0.01);血浆HDL-C浓度升高(P<0.05),其它血脂浓度无明显变化(P>0.05)。而对照治疗组变化不明显。结论:脑梗死患者存在明显高血脂及高血粘。HBO治疗可明显改善脑梗死患者血液流变性,降低血液粘度,但对血脂改善效果不明显。     

妊娠期糖尿病孕妇血脂水平测定

目的研究妊娠期糖尿病孕妇的血脂变化。方法选择正常孕妇4O例（对照组）,妊娠期糖尿病孕妇75例,测定空腹静脉血清胆固醇（TC）、甘油三酯（TG）、高密度脂蛋白（HDL-C）、低密度脂蛋白（LDL-C）、载脂蛋白A（ApoA）、载脂蛋白B（ApoB）、脂蛋白a（Lp（a））水平。结果妊娠期糖尿病组与对照组相比,TC、TG、LDL-C、ApoB测定值升高（P〈0.05）,HDL-C、ApoA测定值降低（P〈0.05）,Lp（a）无统计学意义（P〉0.05）。结论血脂代谢异常可能在妊娠期糖尿病的发病中起一定作用。     

Association of the ARL15 rs6450176 SNP and serum lipid levels in the Jing and Han populations

The association of ADP-ribosylation factor-like 15 (ARL15) rs6450176 single nucleotide polymorphism (SNP) and serum lipid profiles has never been studied in the Chinese population. The present study was undertaken to detect the association of ARL15 rs6450176 SNP and several environmental factors with serum lipid levels in the Jing and Han populations. Genotypes of the SNP were determined in 726 unrelated subjects of Jing nationality and 726 participants of Han nationality. The genotypic and allelic frequencies of the SNP in Jing but not in Han were different between males and females (P < 0.001 and P < 0.05; respectively). The G allele carriers in Han had lower serum total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C) and apolipoprotein (Apo) B levels, and higher ApoA1/ApoB ratio than the G allele non-carriers (P < 0.05-0.01). The G allele carriers in Jing had lower serum TC, high-density lipoprotein cholesterol (HDL-C), ApoA1, ApoB levels and higher ApoA1/ApoB ratio than the G allele non-carriers (P < 0.05 for all). Subgroup analyses showed that the G allele carriers had lower TC and LDL-C levels in Han males; lower LDL-C and ApoB levels in Han females; lower ApoB levels and ApoA1/ApoB ratio in Jing males; and lower LDL-C levels in Jing females than the G allele non-carriers (P < 0.05-0.01). Multiple linear regression analysis showed that serum TC, LDL-C, ApoB levels and the ApoA1/ApoB ratio in Han; and TC, HDL-C and ApoA1 levels in Jing were correlated with the genotypes of the ARL15 rs6450176 SNP (P < 0.05-0.001). Serum lipid parameters were also associated with several environmental factors in both ethnic groups. These findings indicated that there may be a racial/ethnic- and/or sex-specific association of the ARL15 rs6450176 SNP and serum lipid levels.     

中老年急性脑出血和脑梗死患者血脂水平分析

目的:分析中老年急性脑出血(CH)与脑梗死(CI)患者血脂水平的变化。方法:检测50例CH和65例CI及50例健康人群的总胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)、载脂蛋白A1(ApoA1)、载脂蛋白B(ApoB)、脂蛋白(a)〔Lp(a)〕的血浆含量,并进行比较分析。结果:CH组的TC高于对照组(P<0.01),HDL-C显著低于对照组(P<0.01),TC、LDL-C、ApoB显著低于CI组;中老年CH患者随年龄变化血脂代谢的变化不一致。豆纹动脉(LSA)出血组的HDL-C显著低于对照组,TC、LDL-C、ApoB显著高于非豆纹动脉出血(NLSA)组,与CI组无差别,NLSA出血组的TC显著低于对照组和CI组。结论:血脂代谢紊乱容易导致脑LSA粥样硬化,是中老年人CH的危险因素及常见出血部位。     

Association of the Trp316Ser variant (rs1801690) near the apolipoprotein H (β2-glycoprotein-I) gene and serum lipid levels

The objective of the present study was to detect the association of the Trp316Ser variant (rs1801690) near the apolipoprotein H (β2-glycoprotein-I) gene and serum lipid levels in the Mulao and Han populations. A total of 879 subjects of Mulao and 844 subjects of Han Chinese were included. The levels of serum total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C) and ApoA1 in Mulao, and triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), ApoA1 and the ratio of ApoA1/ApoB in Han were different among the three genotypes of the rs1801690 SNP (P < 0.05-0.01). Subgroup analyses showed that the levels of TC, TG, LDL-C, and ApoA1 in Mulao males; ApoA1 in Mulao females; TC, TG, HDL-C and ApoB and the ApoA1/ApoB ratio in Han males; and HDL-C, ApoA1 and the ApoA1/ApoB ratio in Han females were associated with the genotypes of rs1801690 (P < 0.05-0.001). Serum lipid parameters were also associated with several environmental factors (P < 0.05-0.001). The Trp316Ser variant (rs1801690) near the apolipoprotein H (β2-glycoprotein-I) gene was associated with some serum lipid parameters in the two ethnic groups, but the trends of association suggest that the Trp316Ser variant (rs1801690) near the apolipoprotein H (β2-glycoprotein-I) gene might have racial/ethnic-and/or gender-specificity.     

APO(a) variants and lipoprotein(a) in men with or without myocardial infarction

The lipoprotein Lp(a) with high plasma concentration is an independent genetic determinant for cardiovascular diseases. It was investigated as a quantitative factor of risk for myocardial infarction. A total of 345 Italian subjects, 127 Cases and 218 Controls, were studied. Lipids and lipoproteins were compared. Cases had atherogenic traits, such as lower HDL cholesterol and higher triglycerides than Controls. In particular, they had Lp(a) concentrations over the risk threshold, (median, 27 mg/dl in Cases vs 17 mg/dl in Controls; P = 0.0075, Mann-Whitney test) which confirmed the association of this parameter with the disease. Two main functional variants of the apo(a) gene, KringleIV and penta-nucleotide repeat, (PNR) were analyzed. Allele and genotype frequency distributions differed between Cases and Controls. Lp(a) concentrations differed according to PNR genotypes in Controls: subjects having alleles >8 showed lower Lp(a). This was not found in Cases. They had a higher prevalence of the smaller KringleIV alleles, the high Lp(a)-expressing ones. In Cases, genotypes consisting of two small KringleIV alleles were prevalently associated to PNR 8/9 and 8/10, thus preventing Lp(a) lowering. The putative apo(a) enhancer within LINE1 in the apo(a)-plasminogen intergenic region was investigated for functional polymorphisms. No variants that could be associated to the Lp(a) variability were found.