Associations of apolipoprotein E exon 4 and lipoprotein lipase S447X polymorphisms with acute ischemic stroke and myocardial infarction.

BACKGROUND: Because apolipoprotein E (apoE) and lipopoprotein lipase (LPL) polymorphisms interact with each other and with other factors to affect lipid metabolism, we sought to determine their separate and combined effects in association with ischemic vascular disease. METHODS: We performed a case-control study of 816 subjects: 246 acute ischemic stroke patients, 234 acute myocardial infarction patients, and 336 controls. APOE exon 4 and LPL S447X genotypes were determined. RESULTS:APOE epsilon2 and epsilon4 homozygotes were increased in stroke (4.5% vs. 1.0%, p = 0.008), while in myocardial infarction the epsilon4 allele was increased (12.6% vs. 9.5%, p = 0.006) but epsilon2 was decreased (3.7% vs. 12.1%, p = 0.000006). For subjects with either APOE epsilon2 or epsilon4 alleles, LPL X alleles were increased in vascular disease (OR = 2.2, p = 0.01). LPL X alleles displayed opposite tendencies toward association with disease when subjects were divided by sex, smoking, or APOE genotype. Meta-analysis and regression analysis of previous studies supported the sex and smoking dichotomies. CONCLUSION: This is the first report of an association of vascular disease with an interaction of APOE exon 4 and LPL S447X genotypes. Therefore, APOE genotypes and LPL S447X interactions with apoE, sex, and smoking may affect the risk of myocardial infarction and ischemic stroke.     

Association between PPARalpha gene polymorphisms and myocardial infarction

PPARalpha (peroxisome-proliferator-activated receptor alpha) regulates the expression of genes that are involved in lipid metabolism, tissue homoeostasis and inflammation. Consistent rodent and human studies suggest a link between PPARalpha function and cardiovascular disease, qualifying PPARalpha [PPARA in HUGO (Human Genome Organisation) gene nomenclature] as a candidate gene for coronary artery disease. In the present study, we comprehensively evaluated common genetic variations within the PPARalpha gene and assessed their association with myocardial infarction. First, we characterized the linkage disequilibrium within the PPARalpha gene in an initial case-control sample of 806 individuals from the Regensburg Myocardial Infarction Family Study using a panel of densely spaced SNPs (single nucleotide polymorphisms) across the gene. Single SNP analysis showed significant association with the disease phenotype [OR (odds ratio)=0.74, P=0.012, 95% CI (confidence interval)=0.61-0.94 for rs135551]. Moreover, we identified a protective three-marker haplotype with an association trend for myocardial infarction (OR=0.76, P=0.067, 95% CI=0.56-1.02). Subsequently, we were able to confirm the single SNP and haplotype association results in an independent second case-control cohort with 667 cases from the Regensburg Myocardial Infarction Family Study and 862 control individuals from the WHO (World Health Organization) MONICA (Monitoring of Trends and Determinants in Cardiovascular Disease) Augsburg project (OR=0.87, P=0.046, 95% CI=0.72-0.99 for rs135551 and OR=0.80, P=0.034, 95% CI=0.65-0.98 for the three-marker haplotype respectively). From these cross-sectional association results, we provide evidence that common variations in the PPARalpha gene may influence the risk of myocardial infarction in a European population.     

Association between triglyceride-rich lipoprotein remnant receptor polymorphisms and lipid traits

OBJECTIVES: The metabolism of triglyceride-rich lipoproteins (TRL) is, in part, mediated by lipoprotein receptors (such as low density lipoprotein receptor-related protein [LRP] and very low density lipoprotein [VLDL] receptors), which recognize TRL remnants after specific binding with apolipoprotein E. The purpose of this study was to explore the association of the genetic polymorphisms of remnant receptors with lipid, lipoprotein, and apolipoprotein levels including remnant-like particle-cholesterol (RLP-C). DESIGN AND METHODS: Using polymerase chain reaction-amplified DNA, VLDL receptor tetranucleotide repeat polymorphism, LRP trinucleotide repeat polymorphism, and LRP exon 3 polymorphism were analyzed in normal adults (control group: n = 161) and in patients with coronary artery disease (CAD group: n = 102). RESULTS: The allelic distributions of VLDL receptor triple repeat polymorphism, LRP tetranucleotide repeat polymorphism, and LRP exon 3 polymorphism in Koreans were similar to those of Japanese but were significantly different from those of other ethnic groups. There were no significant differences in the allele frequencies of the polymorphisms between the control and CAD groups. VLDL receptor polymorphism in the control group (p = 0.0403) and LRP exon 3 polymorphism in the CAD group (p = 0.0459) showed significant associations with lipoprotein (a) [Lp(a)] levels. CONCLUSIONS: The results of the present study demonstrated significant interracial distribution of remnant receptor polymorphisms. There was no association between the remnant receptor polymorphisms and the RLP-C levels. However, the polymorphisms showed a significant association with Lp(a), which may suggest that the Lp(a) metabolism is in part mediated by the uptake through the remnant receptors.     

载脂蛋白E基因多态性与血脂水平及高脂血症的相关性

目的:分析载脂蛋白E基因多态性、血脂水平与高脂血症的关系。方法:选择2005-06/2006-03武汉大学中南医院收治的高脂血症患者165例为高脂血症组,另外108例健康体检者为健康对照组。所有受试者均采集空腹静脉血,应用等位基因特异性多重聚合酶链反应技术进行载脂蛋白E基因多态性分析,同时测定所有样本血清中总胆固醇,三酰甘油,载脂蛋白AI,载脂蛋白B,高、低密度脂蛋白胆固醇,脂蛋白α和载脂蛋白E水平,并比较不同载脂蛋白E基因型和等位基因受试者血脂水平的差异。结果:273例受试者全部完成测试进入结果分析。①共检出载脂蛋白E的4种基因型,以E3/3频率最高。高脂血症组ApoEE3/3基因型频率明显低于健康对照组(66.1%,75.0%,P<0.05),载脂蛋白E3/4基因型频率明显高于健康对照组(16.4%,6.5%,P<0.05),载脂蛋白Eε4等位基因频率又明显多于健康对照组(12.3%,3.2%,P<0.05)。②高脂血症组总胆固醇、三酰甘油、低密度脂蛋白胆固醇、载脂蛋白E水平明显高于健康对照组(P<0.05),而高密度脂蛋白胆固醇,载脂蛋白AI明显低于正常对照组(P<0.05)。③高脂血症组中载脂蛋白Eε4携带者的总胆固醇、三酰甘油和低密度脂蛋白胆固醇水平明显高于ε2和ε3携带者;载脂蛋白Eε2携带者的总胆固醇、低密度脂蛋白胆固醇、脂蛋白α水平最低。载脂蛋白E水平顺序是E2/3>E3/3>E3/4。结论:载脂蛋白Eε4等位基因与高脂血症有关,载脂蛋白E基因多态性可能是高脂血症患者的遗传因素。     

Association of lipoprotein lipase Ser447Ter polymorphism with brain infarction: a population-based neuropathological study.

BACKGROUND: Variants of the lipoprotein lipase (LPL) gene have been shown to influence serum lipid levels, risk of coronary heart disease and, as found recently, risk of clinical ischaemic cerebrovascular disease. Here we tested for an association between brain infarction and two common polymorphisms of the LPL gene, Ser447Ter and Asn291 Ser. METHOD: To avoid ascertainment and selection bias involved in many association studies, we compared the distribution of these polymorphisms in neuropathologically verified patients (n = 119) vs controls (n = 133) derived from a prospective, population-based study (the Vantaa 85+ study). RESULTS: The LPL Ter447 variant was negatively associated with neuropathologically verified brain infarcts (P = 0.006), and even more strongly with small brain infarcts (P = 0.004). In addition, we found that the Ter447 variant was associated with higher serum HDL chblesterol (P = 0.004) and lower triglyceride levels (P= 0.003), and that it was negatively associated with pathologically verified severe coronary artery disease (P=0.001) in the Vantaa 85+ study sample. The Asn291Ser polymorphism was not significantly associated with brain infarction. CONCLUSION: The Ter447 variant of LPL is associated with decreased risk of brain infarction and coronary artery disease in our very elderly population.     

白细胞介素-33与急性心肌梗死患者经皮冠状动脉介入术后心肌无复流发生的相关性研究

目的探讨白细胞介素-33(IL-33)与急性ST段抬高性心肌梗死(STEMI)经皮冠状动脉介入术(PCI)后心肌无复流发生风险的关系。方法共计纳入STEMI行急诊PCI的患者59例,其中男39例,女20例。于PCI术前采集血样本,以酶联免疫吸附法(ELISA)测定血清可溶性IL-33和高敏C反应蛋白(hs-CRP)水平。心肌无复流(MNR)定义为TIMI血流分级≤2或TIMI(TIMI)3且心肌呈色分级(MBG)≤2。结果共计21例(35.6%)STEMI患者发生MNR,与复流组相比,无复流组IL-33水平显著降低(P=0.019),hs-CRP水平显著升高(P=0.031)。多因素Logistic回归分析表明糖尿病(OR=0.123,95%CI:0.018~0.811,P=0.026)、发病至再灌注时间(OR=0.392,95%CI:0.314~1.106,P=0.025)、血栓负荷评分(OR=0.078,95%CI:0.007~0.913,P=0.040)、hs-CRP(OR=1.441,95%CI:1.162~1.793,P<0.001)、IL-33水平(OR=0.624,95%CI:0.436~0.877,P=0.014)是MNR的独立预测因子。结论 IL-33在MNR的发生中具有重要作用,其水平降低可能是MNR发生的危险因素之一。     

血清C3、C4水平与急性心肌梗死心肌损伤的相关性

目的 探讨血清C3和C4水平与急性心肌梗死(AMI)心肌损伤的关系及其临床意义.方法 采用胶乳增强免疫比浊法测定40例具有溶栓指征的AMI患者入院第1天血清高敏C反应蛋白(hs-CRP)、C3及C4水平,采用化学发光法测定其血清肌钙蛋白(cTnI)水平,并与同期40例健康体检者进行对比分析.经溶栓治疗后,检测AMI患者第3天的血清C3和C4水平,并与入院第1天进行对比分析.结果 与对照组相比,AMI组血清C3和C4水平明显降低,差异有统计学意义(均P＜0.001),而hs-CRP和cTnI水平均显著增加,差异有统计学意义(P=0.005 和P＜0.001).AMI组血清C3水平与血清hs-CRP和cTnI呈正相关(P＜0.001和P=0.005),而且C4水平与与血清hs-CRP和cTnI亦呈正相关,P均＜0.001(r=0.552、0.535).经治疗后,AMI患者入院第3天的血清C3和C4水平较治疗前明显增高,P均＜0.001(u=5.418、5.407).结论 AMI患者的血清C3、C4水平增高与心肌损伤有关,可用于AMI的病情判断和预后评价.     

The S447X variant of lipoprotein lipase gene is associated with metabolic syndrome and lipid levels among Turks

BACKGROUND: We evaluated the relationship of the lipoprotein lipase (LPL) S447X variant with serum lipid levels and the metabolic syndrome (MS) in the Turkish Adult Risk Factor (TARF) study. This is the first study examining this LPL variant in the Turkish population. METHODS: The sample comprised 1586 Turkish adults. Genotyping was performed using the Taqman allelic discrimination assay. RESULTS: The X447 allele frequency was 0.11 (95% CI: 0.10-0.12). X447 allele carriers had significantly higher levels of HDL-C, LDL-C and total cholesterol; and lower fasting glucose, when compared with the SS genotype in females. In men, no significant association with any parameters was seen. The genotypic impact of the S447X variant on lipid levels appears to be modulated by environmental factors, such as cigarette smoking in women. Logistic regression analysis demonstrated a significantly reduced likelihood for metabolic syndrome in female X447 allele carriers (p=0.04), after adjustment for age, cigarette smoking, alcohol usage and physical activity grade. CONCLUSIONS: In especially Turkish women, compared to non-carriers, carriers of the LPL X447 allele have higher levels of HDL-C, LDL-C and total cholesterol, and show a degree of protection against developing the metabolic syndrome.     

急性心肌梗死老年患者NLRP3基因多态性与炎症指标的关联性

目的探究急性心肌梗死老年患者NLRP3基因多态性与炎症指标的关联性。 方法选择2019年1月至2021年1月于蚌埠医学院第二附属医院就诊的急性心肌梗死老年患者126例作为研究组,选择同期体检的健康者100例作为对照组。抽取所有研究对象的空腹静脉血,检测血清高敏C反应蛋白（hs-CRP）、白介素1β（IL-1β）、白介素18（IL-18）以及NLRP3水平,比较研究组和对照组的差异。检测研究组患者NLPR3基因rs10754558位点、rs35829419位点的多态性,比较不同基因型患者血清hs-CRP、IL-1β、IL-18水平的差异。 结果研究组患者hs-CRP、IL-1β、IL-18、NLRP3水平均显著高于对照组［（4.8±2.3）mg/dl vs（1.4±0.9）mg/dl,P＜0.001;（186.4±18.3）ng/ml vs（46.3±16.7）ng/ml,P＜0.001;（241.6±32.5）pg/ml vs（124.6±28.1）pg/ml,P＜0.001;（1.94±0.65）pg/ml vs（0.92±0.54）pg/ml,P＜0.001］,肌钙蛋白阳性比例显著高于对照组（72.22% vs 0,P＜0.001）。研究组中,rs10754558位点GG基因型血清hs-CRP［（5.6±2.4）mg/L］、IL-1β［（217.6±16.7）ng/ml］、IL-18［（264.3±24.7）pg/ml］水平最高,GC基因型次之［（4.6±2.1）mg/L、（177.1±16.3）ng/ml、（236.8±24.1）pg/ml］,CC基因型最低［（4.0±2.1）mg/L、（156.4±15.9）ng/ml、（210.2±23.9）pg/ml］,组间差异均具有统计学意义（P＜0.05）。rs35829419位点AA基因型hs-CRP［（7.0±1.9）mg/L］、IL-1β［（229.2±17.2）ng/ml］、IL-18［（285.3±28.6）pg/ml］水平最高,AC基因型次之［（5.3±2.0）mg/L、（194.3±16.8）ng/ml、（253.4±28.9）pg/ml］,CC基因型最低［（4.6±1.8）mg/L、（183.0±17.0）ng/ml、（236.3±28.2）pg/ml］,组间差异均具有统计学意义（P＜0.05）。GG+GC（OR=1.726,95%CI：1.306~4.018,P＜0.001）、AA+AC（OR=4.617,95%CI：2.512~8.019,P＜0.001）是影响急性心肌梗死的独立危险因素。 结论急性心肌梗死老年患者NLRP3基因rs10754558位点、rs35829419位点基因多态性影响血清炎症指标水平。     

脂蛋白脂酶HindⅢ酶切多态性与2型糖尿病患者血脂及冠心病的关系

目的:观察天津市汉族人群脂蛋白脂酶基因内含子8第495位点多态性分布情况,探讨基因分布与2型糖尿病的关联性。方法:选择2004-01/06在天津医科大学总医院内分泌科住院及门诊部收治的104例2型糖尿病组患者为糖尿病组,均符合1997年美国糖尿病学会诊断标准确,男70例,女34例,平均(50±5)岁,其中合并冠心病患者18例,均符合国际冠心病诊断标准。选择94名同期到院体检者为对照组,男62名,女32名,平均(49±6)岁,空腹血糖<6.1mmol/L。葡萄糖氧化酶─过氧化物酶法检测所有受试对象血浆葡萄糖含量,CHOD-PAP法检测所有受试对象血清胆固醇水平,GPO-PAP法检测血清三酰甘油水平,放射免疫法检测血清胰岛素。用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)法测定脂蛋白脂酶基因内含子8第495位点多态性。根据本实验设计的引物,若2条同源染色体上该位点都为T,表示为TT;若该位点均为G,表示为GG;若两条同源染色体上该位点分别是T和G,表示为TG。结果:①糖尿病组及对照组受试对象内含子8第495位点多态性基因型或等位基因频率差异均无统计学意义。②TT组糖尿病患者三酰甘油水平显著高于TG/GG组(2.14±1.45,1.55±0.96mmol/L,P<0.05)。③糖尿病组冠心病及非冠心病患者TT和TG/GG基因型无明显差别。④多元回归分析表明基因型、年龄、胰岛素抵抗与2型糖尿病合并高三酰甘油有关。⑤将糖尿病患者根据三酰甘油>1.7mmol/L定为高三酰甘油组,三酰甘油≤1.7mmol/L定为低三酰甘油组。在2型糖尿病组TT基因型和T等位基因与高三酰甘油有关,对照组没有统计学差异。结论:天津市汉族人群存在脂蛋白脂酶基因内含子8第495位点单核苷酸多态性。脂蛋白脂酶基因内含子8第495位点多态性与2型糖尿病无关。脂蛋白脂酶基因内含子8第495位点多态性与2型糖尿病合并高三酰甘油存在关联性,T等位基因是2型糖尿病合并高三酰甘油的独立危险因素。     

Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.

The DNA sequences were determined for the lipoprotein lipase (LPL) gene from five unrelated Japanese patients with familial LPL deficiency. The results demonstrated that all five patients are homozygotes for distinct point mutations dispersed throughout the LPL gene. Patient 1 has a G-to-A transition at the first nucleotide of intron 2, which abolishes normal splicing. Patient 2 has a nonsense mutation in exon 3 (Tyr61----Stop) and patient 3 in exon 8 (Trp382----Stop). The latter mutation emphasizes the importance of the carboxy-terminal portion of the enzyme in the expression of LPL activity. Missense mutations were identified in patient 4 (Asp204----Glu) and patient 5 (Arg243----His) in the strictly conserved amino acids. Expression study of both mutant genes in COS-1 cells produced inactive enzymes, establishing the functional significance of the two mis-sense mutations. In these patients, postheparin plasma LPL mass was either virtually absent (patients 1 and 2) or significantly decreased (patients 3-5). To detect these mutations more easily, we developed a rapid diagnostic test for each mutation. We also determined the DNA haplotypes for patients and confirmed the occurrence of multiple mutations on the chromosomes with an identical haplotype. These results demonstrate that familial LPL deficiency is a heterogeneous genetic disease caused by a wide variety of gene mutations.     

Apolipoproteins and lipoprotein particles in moroccan patients with previous myocardial infarction

We investigated for the first time in the Moroccan population the relationship between lipoprotein particles and the progression of coronary atherosclerosis. Plasma lipid variables, including total cholesterol, triglycerides, high-density lipoprotein-cholesterol, low-density lipoprotein-cholesterol, apolipoproteins AI and B, Lp AI, Lp AI:AII, and Lp(a) were measured in 40 Moroccan adults who suffered a verified myocardial infarction before the age of 50 years. The results were compared with a healthy control group. Plasma total cholesterol, triglyceride, and Lp AI : AII levels of patients did not differ significantly from control subjects. Patients had lower plasma high-density lipoprotein-cholesterol (P<0.05), apo AI (P<0.05), and Lp AI (P<0.001 ) than control subjects, suggesting that the cholesterol reverse transport system is altered in patients with previous myocardial infarction. However, patients had higher plasma low-density lipoproteincholesterol (P<0.001), apo B (P<0.001), and Lp(a) (P<0.001). In all patients the best predictor of cardiovascular risk was the independent risk factor Lp(a) plasma level, and the Lp AI plasma level. In this study, the increased coronary atherosclerosis risk with elevated plasma levels of apo B and Lp(a), and with reduced Lp AI, was substantially modified by smoking habits, but not by family history of myocardial infarction.     

Serum lipid and lipoprotein levels in normal Chinese

Serum lipid and lipoprotein levels in normal healthy Chinese adults were determined. The average serum total lipid, cholesterol, triglyceride and phospholipid levels were 568 ± 96, 181 ± 34, 90 ± 35 and 181 ± 28 mg/100 ml, respectively. Serum cholesterol in Chinese appeared to be significantly lower than that in Caucasians. The possible cause of this difference is discussed in terms of variations of dietary intake between these ethnic groups.     

广西黑衣壮族人群脂蛋白脂酶基因多态性与血脂水平关系的研究

目的探讨广西黑衣壮族人群脂蛋白脂酶（LPL）基因PvuⅡ多态性及其与血脂水平的关系。方法采用整群抽样方法对325名20～80岁黑衣壮族人群的血压、身高、体重、体重指数、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（apo）A1、apoB及apoA1／apoB比值进行测定；用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和直接测序法检测LPL-PvuⅡ位点基因型及等位基因分布频率，分析LPL-P、ruⅡ基因型与血脂和apo水平的关系。并将其结果与当地的331名汉族人群作比较。结果黑衣壮族人群TC、TG、LDL-C和apo B水平显著低于汉族人群[分别为（4．57．4±0．97）mmol／L比（4．79．4±0．99）mmol／L，P〈0．01；（1．16．4±0．95）mmol／L比（1．31．4±0．97）mmol／L，P〈0．05；（2．30．4±0．68）mmol／L比（2．52．4±0．77）mmol／L，P〈0．01；（0．87．4±0．21）g／L比（0．95．4±0．22）g／L，P〈0．01]，而HDL-C水平和apoA1／apoB比值则显著高于汉族人群[分别为（2．17．4±0．51）mmol／L比（2．01．4±0．47）mmol／L，P〈0．01和（1．88．4±1．03）比（1．67．4±0．78），P〈0．01]，apoA1水平与汉族人群比较差异无统计学意义[（1．47．4±0．14）g／L比（1．45．4±0．15）g／L，P〉0．05]。黑衣壮族人群含LPL-PvuⅡ酶切位点（P＋）和不含该位点（P-）等位基因频率分别为52．92％和47．08％，汉族人群P＋和P-等位基因频率分别为58．46％和41．54％（P〈0．05）。黑衣壮族人群P＋P＋、P＋P-和P-P-基因型的分布频率分别为23．08％、59．69％和17．23％，汉族人群P＋P＋、P＋P-和P-P-基因型的分布频率分别为29．31％、58．31％和12．38％（P〉0．05）。黑衣壮族和汉族人群LPL-PvuⅡ不同基因型亚组间的血脂及apo水平比较差异均无统计学意义（均P〉0．05）。结论广西黑衣壮族人群LPL-PvuⅡ等位基因频率与汉族人群比较有显著差异，但P＋P＋、P＋P-和P-P-基因型频率与汉族人群比较差异无统计学意义．两民族人群LPL-PvuⅡ多态性对血脂水平无明显影响。     

Lipid and lipoprotein analysis of cats with lipoprotein lipase deficiency

BACKGROUND: We have previously described a colony of domestic cats with a naturally occurring mutation in the lipoprotein lipase (LPL) gene. We have now further characterized cats homozygous for LPL deficiency (LPL -/-, homozygotes), and have contrasted these with heterozygotes (LPL +/-) and normal cats (LPL +/+). MATERIALS AND METHODS: Density gradient ultracentrifugation with subsequent lipid analysis, agarose and polyacrylamide gel electrophoresis was used to examine detailed liproprotein differences between the genotypes. Oral fat loading studies and breast milk fatty acid analysis were also performed to further characterize the phenotypic expression of LPL deficiency in this model system. RESULTS: Several lipid abnormalities associated with homozygosity for LPL deficiency were evident. Triglyceride-rich lipoprotein-triglycerides (TRL-TG) and cholesterol (TRL-C) were higher (TRL-TG 2.09 +/- 1.14 vs. 0.15 +/- 0.04 mmol L-1, P < 0.001; TRL-C 0.42 +/- 0.30 vs. 0.11 +/- 0.16 mmol L-1, P < 0.05) in male -/- than in male +/+ cats, as was HDL-cholesterol (HDL-C, 1.75 +/- 0.24 vs. 1.41 +/- 0.14 mmol L-1, P < 0.05). LDL-C levels were lower in homozygous cats than in control cats, similar to what is seen in human LPL deficiency. Oral fat loading studies revealed that homozygous cats have a marked reduced ability to clear plasma TGs in terms of peak time (7 h vs. 3 h), peak height (9.36 vs. 1.1 mmol L-1), area under the TG clearance curve (AUC, 280.3 vs. 2.2 h mmol L-1) and time to return to baseline. Fasting lipid and lipoprotein levels were not significantly different between heterozygous and normal cats. However, oral fat loading in heterozygotes revealed an intermediate phenotype (peak of 2.35 mmol L-1 at 5 h, AUC 13.1 h mmol L-1), highlighting the impaired TG clearance in these animals. CONCLUSION: Thus, LPL deficiency in the cat results in a lipid and lipoprotein phenotype that predominantly parallels human LPL deficiency, further validating the use of these animals in studies on the pathobiology of LPL.     

Regional variation in adipose tissue lipoprotein lipase activity: association with plasma high density lipoprotein levels

The associations of adipose tissue lipoprotien lipase (AT-LPL) activity with body fatness and plasma lipoprotein levels were studied in the light of the recently described regional differences in AT-LPL activity. In this regard, heparin-releasable LPL activity was measured in abdominal and femoral adipose tissues of 29 pre-menopausal women. Body fatness variables were all positively correlated with abdominal and femoral AT-LPL activities expressed per 10(6) cells. However, abdominal and femoral AT-LPL activities expressed per unit of cell surface displayed divergent association patterns with body fatness and plasma lipoprotein levels. Indeed, only abdominal AT-LPL activity remained significantly correlated with body fatness variables after adjustment for fat cell surface. Furthermore, whereas abdominal AT-LPL activity tended to be negatively correlated with plasma HDL-cholesterol levels, femoral AT-LPL activity was positively correlated with plasma HDL2-cholesterol (r = 0.40, P less than 0.05) concentration and with the HDL2-cholesterol/HDL3-cholesterol ratio (r = 0.49, P less than 0.01). These results demonstrate the importance of taking into account the regional variation in metabolic activity of adipose tissue when studying its associations with body fatness, and with plasma lipoprotein levels. The lack of association between abdominal AT-LPL activity and plasma HDL2-cholesterol levels lead us to suggest that AT-LPL activity may not be causally related with plasma HDL levels.     

载脂蛋白E和脂蛋白脂酶基因多态性与冠心病关系的研究

目的:研究载脂蛋白E(apoE)基因和脂蛋白脂酶(LPL)基因多态性与冠心病的关系。方法:选择80例冠心病患者(CHD组),对照组为60例健康人,通过聚合酶链反应-限制性片段长度多态性测定apoE基因和LPL基因多态性。结果:CHD组携带E3/4基因型较对照组增高,对照组携带E3/3较CHD组增高(P<0.05)。E4等位基因频率分布CHD组明显高于对照组(P<0.05);LPL基因型分布和等位基因频率在CHD组和对照组间差异无统计学意义(P>0.05)。apoE和LPL基因多态性与冠脉病变严重程度无相关性。apoE和LPL两基因联合比较发现,携带E4等位基因与否的不同LPL基因型在CHD组和对照组间无统计学差异(P>0.05)。结论:apoEE4等位基因可能是冠心病的遗传易感因子;LPL基因型与冠心病发病无显著关联,apoE和LPL基因型在冠心病发病中无明显相互作用。