载脂蛋白E基因多态性对血脂及高血压病的影响

为探讨载脂蛋白E基因多态性对血脂及高血压病的影响，采用聚合酶链式反应－限制性片段多态性方法测定112例原发性高血压病人及118例非高血压病对照的载脂蛋白E基因型。结果发现高血压病患者ε4等位基因频率及载脂蛋白E ε4携带者显著高于对照组（P＜0．05）。载脂蛋白E ε4携带者的总胆固醇和低密度脂蛋白胆固醇水平显著高于载脂蛋白E ε2携带者（P＜0．05），载脂蛋白E ε3／ε3携带者的低密度脂蛋白胆固醇水平也显著高于载脂蛋白E ε2携带者（P＜0．05）。载脂蛋白E ε4携带是高血压病的独立危险因素（P＜0．05）。研究表明载脂蛋白E基因多态性影响个体的血脂和脂蛋白水平，载脂蛋白E ε4为高血压病的一种重要遗传标志。     

有冠心病家族史儿童载脂蛋白E基因多态性的研究

目的：探讨有冠心病（CHD）家族史儿童载脂蛋白（apo)E基因多态性的分布及其对血脂、脂蛋白、apo的影响。方法：采用改良的聚合酶链式反应－限制性片段长度多态性方法,分析83例有CHD家族史的儿童和282例无CHD家族史的儿童apoE基因型。结果：与无CHD家族史的儿童比较,有CHD家族史儿童apoε4等位基因频率较高（分别为6．0％、15．7％,P＜0．01）。早发CHD家族史的儿童ε4等位基因频率较非早发及无CHD家族史儿童为高,三组之间的ε4等位基因频率差异有性（分别为18．3％、14．8％、6．0％,P＜0．05。apoE基因多态性对有CHD家族史儿童的血脂水平有影响,ε2、ε3、ε4等位基因携带有的血总胆固醇（TC）、低密度脂蛋白－胆固醇（LDL－C）、脂蛋白（a)、apoB100、apoE浓度有差异（P＜0．05）;与ε3等位基因携带比较,ε4具有较高的血TC、LDL－C、apoB100水平和较低的apoAⅠ、apoE水平;ε2等位基因携带的血TC、LDL－C和脂蛋白（a)水平较低（P＜0．05）。结论有CHD家族史儿童apoE基因多态性其他儿童不同,并对血浆脂蛋白代谢产生明显影响。     

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。     

老年冠心病患者载脂蛋白E基因多态性检测的临床意义

目的：探讨载脂蛋白E(apoE)基因多态性与老年冠心病的关系及其对血脂、脂蛋白水平的影响。方法：应用聚合酶链反应—限制性片段长度多态性法(PCR—RFLP)检测l25例老年冠心病患者和ll6例健康老年人(对照组)的apoE基因型；按常规方法测定血浆脂质、脂蛋白水平。结果：冠心病组及对照组共检出6种基因型，分别为：E2／2、E2／3、E3／3、E3／4、E4／4、E2／4；冠心病组E3／3基因型频率(51．2％)和ε3等位基因频率(73．2％)明显低于对照组(69．8％和84．0％，P＜o．05)；E3／4基因型频率(30．4％)和ε4等位基因频率(17．6％)明显高于对照组(11．2％和6．9％，P＜0.05)；冠心病组总胆固醇(TC)、低密度脂蛋白—胆固醇(LDL—C)水平明显高于对照组(P＜0.05)；冠心病患者中E2／3、E3／3、E3／4基因型之间TC、LDL—C水平差异有显著性(P＜0.05)。结论:ε4等位基因是冠心病重要的遗传标记；apoE基因多态性可能通过影响血脂水平而影响冠心病的发生。     

载脂蛋白E基因多态性与健康人群血脂谱改变的关系

目的 :研究载脂蛋白E(apoE)基因多态性与健康人群血脂谱改变的关系。方法 :随机选择 16 8例江苏地区无血缘关系健康汉族人群 ,用聚合酶链反应 限制性片段长度多态性技术检测其apoE基因型。分析各基因型及等位基因对血脂、载脂蛋白及脂蛋白 (a)的影响。结果 :apoE各等位基因血清总胆固醇 (TC)、低密度脂蛋白胆固醇 (LDL C)及apoB水平由高到低依次为ε4 >ε3>ε2 。ε2 等位基因具有明显的降低TC、LDL C和apoB的作用 ;而ε4 等位基因的作用正相反。结论 :apoE基因多态性是个体间血脂谱差异的独立遗传因素。     

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。     

载脂蛋白E基因多态性与血脂水平的关系

目的研究载脂蛋白E基因多态性与血脂水平的关系.方法应用等位基因特异性多重聚合酶链反应对113例高脂血症患者和108例健康对照者进行载脂蛋白E基因型进行分析,并对其血脂水平进行检测.结果高脂血症患者总胆固醇、甘油三酯、低密度脂蛋白胆固醇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水平明显低于正常对照组(P＜0.05);在载脂蛋白E的3种基因型中以载脂蛋白E3/3型多见,高脂血症患者中载脂蛋白Eε4等位基因频率明显高于健康对照组(P＜0.05).结论载脂蛋白E基因多态性可能是高脂血症患者的遗传因素.     

载脂蛋白E基因多态性对血脂水平的影响及与冠状动脉狭窄的关系

为探讨载脂蛋白E基因多态性对血脂水平的影响及与冠状动脉狭窄程度的关系 ,采用聚合酶链反应—限制片段长度多态性对 95例冠心病患者和 46例正常对照者载脂者蛋白E基因型进行分析 ,同时测定血脂及载脂蛋白B水平。并根据冠状动脉受累支数不同将冠心病患者分为冠状动脉多支病变组和单支病变组。结果显示 ,5 5例冠状动脉病变多支组和 40例冠状动脉单支病变组E3/ 4基因型和ε4等位基因频率均高于对照组 (P <0 .0 1) ,且多支病变组E3/ 4基因型和ε4等位基因频率高于单支病变组 (P <0 .0 5 )。与E3/ 3及E2 / 3基因型比较 ,E3/ 4基因型者有较高的总胆固醇、低密度脂蛋白胆固醇和载脂蛋白B水平及较低的高密度脂蛋白胆固醇水平。与对照组比较 ,冠心病组E3/ 4基因型升高总胆固醇、低密度脂蛋白胆固醇和载脂蛋白B的作用及降低高密度脂蛋白胆固醇的作用更明显。表明载脂蛋白E基因多态性影响血胆固醇代谢 ,ε4等位基因与冠心病危险性增加有关 ,ε4等位基因频率升高的冠心病者冠状动脉受累支数加重 ,推测ε4等位基因可能与冠状动脉狭窄程度存在内在联系。     

肥胖者高密度脂蛋白亚类组成与脂蛋白酯酶基因多态性的关系

目的探讨肥胖者高密度脂蛋白亚类组成与脂蛋白酯酶基因内含子8 HindⅢ酶切位点多态性的关系。方法采用聚合酶链反应限制性片长多态性和双向电泳免疫印迹检测法,分析95例肥胖者和144例体质指数正常者的脂蛋白酯酶基因内含子8 HindⅢ多态性、高密度脂蛋白亚类组成及相对百分含量。结果肥胖组和对照组均以H H 基因型为主。肥胖组血浆甘油三酯、载脂蛋白B100、CⅡ、CⅢ、E、前β1高密度脂蛋白水平及甘油三酯/高密度脂蛋白胆固醇较对照组增加,而高密度脂蛋白胆固醇、载脂蛋白AI、高密度脂蛋白2b水平及载脂蛋白E/CⅢ明显降低(P<0.05)。肥胖组H H 基因型者与H-H-者比较,血清甘油三酯、载脂蛋白B100、前β1-高密度脂蛋白、高密度脂蛋白3b含量显著升高,而载脂蛋白E/载脂蛋白CⅢ、高密度脂蛋白2a和高密度脂蛋白2b显著降低;肥胖组H H-基因型者与H-H-者比较,载脂蛋白B100、前β1高密度脂蛋白和高密度脂蛋白3b含量显著升高,而载脂蛋白E/CⅢ和高密度脂蛋白2a显著降低(P<0.05)。对照组H H 及H H-基因型者血清载脂蛋白CⅡ、载脂蛋白CⅢ和高密度脂蛋白3a含量均较H-H-者显著升高,而载脂蛋白E/载脂蛋白CⅢ、高密度脂蛋白2a、高密度脂蛋白2b显著降低(P<0.05)。结论脂蛋白酯酶基因H H 基因型与肥胖者增高的甘油三酯水平有关。中国人脂蛋白酯酶基因HindⅢ酶切位点多态性与高密度脂蛋白亚类的组成和分布相关,H 等位基因携带者高密度脂蛋白颗粒有变小的趋势,且肥胖者更为明显,表明H 等位基因携带者高密度脂蛋白成熟代谢障碍。     

载脂蛋白E基因多态性与冠心病的相关性

目的 探讨载脂蛋白E基因遗传变异与冠心病病变程度的相关性及对预后的影响.方法 抽取251例冠心病患者和200例对照者,应用常规方法测定血脂和脂蛋白水平,采用聚合酶链反应限制片长多态性技术对两组载脂蛋白E基因型频率分布进行分析.结果 共检测出5种基因型,分别为载脂蛋白ε3/3、ε3/2、ε4/3、ε4/2及ε4/4,ε2/2未见.不同载脂蛋白E等住基因型对血脂、脂蛋白水平的作用具有较大差异;在正常血脂水平亚组,冠心病组载脂蛋白ε4/3基因型和ε4等位基因频率明显高于对照组,ε3/3基因型和ε3等位基因频率则明显低于对照组;而在高脂血症亚组,两组之间载脂蛋白E各基因型和等位基因型频率均未见统计学差异.冠心病组心功能Ⅲ～Ⅳ级患者的载脂蛋白ε4/3基因型和ε4等位基因频率高于心功能Ⅰ～Ⅱ级患者,并具有较低的ε3/3基因型频率.结论 载脂蛋白E基因多态性与冠心病的发生发展密切相关,且对心脏功能有一定的作用;载脂蛋白ε4/3基因型和ε4等位基因是冠心病发病重要的遗传易患标记之一,并可能与冠心病心功能低下或心脏事件的发生有关;ε3/3基因型为冠心病的保护因子.     

常见心血管病患者血脂和载脂蛋白的比较

目的　对常见心血管病患者血脂和载脂蛋白比较分析。方法　入选冠心病 (CHD)患者 86例 ,高血压病(EH)患者 85例 ,高血压合并冠心病 (EH +CHD)患者 78例 ,风湿性心脏病 (RHD)患者 72例和扩张型心肌病(DCM )患者 6 5例 ;健康对照组 10 6例。采用酶法测定血脂 ,免疫比浊法测定载脂蛋白。结果　①EH组、EH +CHD组和CHD组的总胆固醇 (T ch)、三酰甘油 (TG)、低密度脂蛋白胆固醇 (LDL c)、载脂蛋白B(ApoB)明显升高 ,而DCM组和RHD组与之相反 ,明显低于对照组。②所有患者的载脂蛋白A- I(ApoAI)、ApoAI/B的水平均较对照组低。③EH +CHD组T- ch、LDL -c和ApoB的水平最高 ,EH组和CHD组次之 ,DCM组水平最低。 结论　EH合并CHD患者血脂水平最高 ,在积极降血压的同时尤其要注意调脂治疗 ,血浆载脂蛋白测定较血脂测定更有意义。     

Influence of apolipoprotein E genotype on the reliability of the Friedewald formula in the estimation of low-density lipoprotein cholesterol concentrations

Lipoprotein data and apolipoprotein (apo) E genotype from 1302 participants, covering a wide range of total plasma cholesterol levels, were used to examine the impact of apo E genotype on the estimation of low-density lipoprotein cholesterol (LDL-C0 concentrations by the Friedewald formula using high-density lipoprotein cholesterol and triglyceride (TG) concentrations as compared with the beta -quantification reference procedure. The results showed that participants with apo E2/E2 genotype had significantly higher very low-density lipoprotein cholesterol (VLDL-C) concentrations and VLDL-C/TG ratio as well as lower LDL-C concentrations than participants with other apo E genotypes. Heterozygous carriers of the epsilon 2 allele had significantly higher VLDL-C than participants with apo E3/E3 and E4/E3 genotypes. The mean absolute error and the mean percentage of bias in calculated LDL-C according to all apo E genotypes, except E2/E2 genotype, were less than 0.16 mmol/L and 4.4%, respectively. Indeed, the mean error and the mean percentage of bias associated with the LDL-C calculated by the Friedewald formula in the apo E2/E2 group were 0.93 mmol/L and 40.6%, respectively. However, participants with the apo E2/E2 genotype and a type III phenotype showed a mean error and a mean percentage of bias reaching 1.53 mmol/L and 63.5%, respectively, whereas E2/E2 participants with a non-type III phenotype had a mean error and a mean percentage of bias of 0.18 mmol/L and 11.0%, respectively. Moreover, 41.9% to 57.1% of the participants had an absolute bias higher than 5% according to the apo E genotype, except for the apo E2/E2 genotypic group where 88.6% of the participants had an absolute bias higher than 5%. Stepwise multiple linear regression analyses revealed that the apo E genotype contributed to 39.0% of the VLDL-C/TG ratio variance, whereas sex, age, and high-density lipoprotein cholesterol explained between 0.5% and 3.2% of the variance. These results indicate that the apo E genotype exerts a significant influence on the estimation of LDL-C concentrations by the Friedewald formula as compared with the beta-quantification.     

Apolipoprotein E polymorphism in type 2 diabetic patients of Talca, Chile

Apolipoprotein E (apo E) modulates the metabolism of atherogenic lipoprotein particles and participates in the process of cellular incorporation of specific lipoproteins. Genetic polymorphism of apo E has been reported as an important dyslipidemia genetic marker associated with coronary artery disease. Type 2 diabetes mellitus is a disease with a high incidence and prevalence in the world. The main cause of death in these patients is myocardial stroke and a high incidence of general cardiovascular complications. The purpose of this work was to characterize the genotype of apo E in diabetic patients from Talca, Chile, in order to describe the allelic frequency of the apo E gene and its correlation to the lipids profile. Type 2 diabetic patients (200) were recruited from the Diabetes Program of Talca Hospital, Chile. Apo E genotype was determined by restriction fragment-length polymorphism analysis. A biochemical characterization was performed in all the subjects. Type 2 diabetic patients had elevated levels of glycemia, lipid profile and BMI compared to the control group. The E3/3 genotype and epsilon3 allele had a higher frequency in both groups. The E2/3 and E3/4 genotypes had higher levels of triglyceride (TG) and cholesterol respectively; however, there was not any statistical relationship between them. In conclusion, genotype of apo E in diabetic patients did not differ with healthy; E2/3 and E3/4 genotypes tend to have higher levels of triglyceride and cholesterol respectively. We think that these results corroborate that in the etiology of the dyslipidemia, there is more than one associate genetic marker.     

西北地区中老年人群ApoE基因分布特征及血脂水平与认知功能障碍的关系

目的 探讨我国西北地区中老年人群ApoE基因分布特征及其血脂水平与轻度认知障碍（MCI）、阿尔兹海默病（AD）患者发病的关系。方法 以门诊就诊和住院的陕西、甘肃、青海等地区患者为研究对象,根据MCI及AD诊断标准,从中筛查出MCI组120例,AD组64例,正常对照组65例;采用基因芯片法行ApoE基因型测定及血脂检测,并进行统计学分析。结果 本研究中6种基因型均有测出;所选3组人群的ApoE基因型分布符合Hardy-Weinberg遗传平衡定律;3组间的基因型分布E3/E3纯合子频率最高(72.3%),E2/E2型最少（1.5%）,其中,MCI组及AD组E3/E4和E4/E4基因型频率明显高于对照组,而E2/E3型则低于对照组(均P<0.05);MCI组与AD组之间的等位基因分布频率差异无显著性;从血脂水平与基因多态性关系上,AD组患者血清TC、LDL-C水平明显增高,与对照组比较,差异有显著性(P<0.05);MCI及AD组患者中ApoEε4基因型TC、LDL-C 水平明显高于ApoEε2基因型(P<0.05),组间对照显示MCI及AD组ApoEε4基因型TC、LDL-C水平均高于对照组(P<0.05),但MCI与AD组ApoEε4基因型TC、LDL-C水平无明显差异。结论 西北地区中老年人群的ApoE基因分布具有一定的地域特性,其人群MCI及AD的患病与ApoE基因的多态性及血脂水平存在一定的关联。     

Effects of hormone replacement therapy and hepatic lipase polymorphism on serum lipid profiles in postmenopausal Japanese women

The purpose of this study was to evaluate the relationships among hepatic lipase (HL) polymorphism, serum lipids, lipoproteins, and remnant-like particle cholesterol (RLP-C) and to determine the effects of hormone replacement therapy (HRT). We assessed the HL polymorphism in 209 postmenopausal Japanese women. Levels of serum total cholesterol, low density lipoprotein (LDL) cholesterol, high density lipoprotein (HDL) cholesterol, triglycerides, apolipoprotein (Apo) AI, Apo B, Apo E, Apo CII, Apo CIII, and RLP-C were measured before and after 3 months of HRT. The frequency of each genotype was 32% for -514 C/C, 41% for C/T, and 27% for T/T. Subjects with the C/T and T/T genotypes had higher levels of HDL cholesterol and Apo AI than those with the C/C genotype. Those with the T/T genotype had higher levels of RLP-C than those with the C/C or C/T genotype. Serum total cholesterol, LDL cholesterol, Apo B, Apo E, and Apo CII were decreased, and HDL cholesterol and Apo AI were increased significantly in all genotypes after 3 months of HRT. There were no differences in these changes with genotype. The HL polymorphism was associated with higher levels of HDL cholesterol, Apo AI, and RLP-C, and the HL gene variation may contribute to HL activity and affect serum lipoprotein metabolism. Effects of HRT on serum lipids, lipoproteins, and remnant lipoprotein metabolism were unaffected by the HL polymorphism.     

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B基因XbaI位点多态性对载脂蛋白和血脂的影响及其性别差异

目的 :探讨人群中载脂蛋白 (apo)B基因的XbaI位点多态性对载脂蛋白和血脂水平的影响及其性别差异。方法 :采用聚合酶链反应 (PCR)结合限制性片段长度多态性 (RFLP)分析的方法 ,分析 5 36名 2 5～ 6 4岁的无血缘关系的汉族人的apoB基因XbaI位点多态性 ,并测定其血清apoAI、apoB、总胆固醇 (TC)、甘油三酯 (TG)、高密度脂蛋白胆固醇 (HDL C) ,并计算低密度脂蛋白胆固醇 (LDL C)及非高密度脂蛋白胆固醇 (nHDL C)。结果 :XbaI基因型和等位基因频率的分布无性别差异 ,但排除其它危险因素的影响后 ,该基因型对男性血脂的影响大于对女性的影响。男性X-X+基因型者TC、nHDL C和LDL C水平明显高于X-X-基因型者 (P <0 .0 5 ) ;XbaI基因型可解释男性LDL C变化的 1.6 % (P<0 .0 5 )。结论 :XbaI基因型对载脂蛋白和血脂的影响有性别差异 ,对男性LDL C的影响最大。     

The detection of apolipoproteins AI and B in the liver of patients with and without hyperlipoproteinemia (author's transl)

Liver sections as well as isolated liver cells from 5 patients with a normal liver and normal serum lipids and patients with familial hyperlipoproteinemia type IIa (n=6), type IIb (n=11), type IV (n=13) and type V (n=2) were studied for the presence of apolipoprotein (apo) AI and B by immunofluorescence technique. At the time of liver biopsy the actual serum concentrations of HDL- and LDL-cholesterol and triglycerides were determined. In patients without metabolic disturbances apo AI was detectable in hepatocytes in 2 out of 5 cases. Apo B was not found in the liver of these patients. The non-parenchymal liver cells did not show depositions of apoproteins. In the group of 32 patients with hyperlipoproteinemia 6 cases showed in the liver apo AI and 2 cases apo B. The apoproteins exhibited a granular fluorescence pattern in the cytoplasm of hepatocytes. There was no correlation between the apoproteins in the liver and the degree of fat depositions in hepatocytes or the concentrations of serum lipids. The results indicate that the fat droplets in hepatocytes of patients with hyperlipoproteinemia represent lipid particles free of apoproteins. The lack of apoproteins in the liver with elevation of lipids in serum can be explained with a disturbed hepatic clearance function for lipoproteins.     

The relationship of sterol regulatory element-binding protein cleavage-activation protein and apolipoprotein E gene polymorphisms with metabolic changes during weight reduction

Sterol regulatory element-binding protein cleavage-activating protein (SCAP) and apolipoprotein E (apo E) regulate cellular and plasma lipid metabolism. Therefore, variations in the corresponding genes might influence weight reduction and obesity-associated metabolic changes. We investigated the relationships of SCAP (Ile796Val) and apo E polymorphisms on metabolic changes during weight reduction by using a 12-week very low-energy diet. Body composition, serum lipids, plasma glucose, and insulin were assessed in 78 healthy premenopausal women (initial body mass index, 34 +/- 4 kg/m(2); age, 40 +/- 4 years) before and after the intervention. The SCAP genotype groups did not differ in the responses of any parameters measured during weight reduction. Apo E did not differentiate the weight loss, but the changes in total and low-density lipoprotein cholesterol for the genotype groups apo E epsilon2/3, epsilon3/3, as well as epsilon3/4 and epsilon4/4 combined were -0.94 +/- 0.56 and -0.59 +/- 0.32, -0.71 +/- 0.49 and -0.49 +/- 0.45, and -0.55 +/- 0.47 and -0.37 +/- 0.39 mmol/L, respectively (P < .05 for both). In conclusion, neither the SCAP Ile796Val nor the apo E polymorphism was associated with weight loss in obese premenopausal women. However, the apo E-but not SCAP genotype-seems to be one of the modifying factors for serum cholesterol concentrations during very low-energy diet in obese premenopausal women.