Gestational hyperlipidemia and acute pancreatitis with underlying partial lipoprotein lipase deficiency and apolipoprotein E3/E2 genotype

We report the case of a patient who experienced extreme recurrent gestational hyperlipidemia. She was diagnosed with partial lipoprotein lipase (LPL) deficiency but without an associated LPL gene mutation in the presence of the apolipoprotein E3/2 genotype. This is the first reported case of extreme gestational hyperlipidemia with a partial LPL deficiency in the absence of an LPL gene mutation and the apolipoprotein E 3/2 genotype. She was managed with strict dietary control and medicated with omega-3 acid ethyl esters. A patient with extreme hyperlipidemia that is limited to the gestational period should be considered partially LPL-deficient. Extreme instances of hyperlipidemia increase the risk of acute pancreatitis, and the effect of parturition on declining plasma lipid levels can be immediate and dramatic. Therefore, decisions regarding the timing and route of delivery with extreme gestational hyperlipidemia are critical and should be made carefully.

Immunoexpression of gelatinase and apolipoprotein E in induced glomerulosclerosis in adult male albino rat

Introduction: The abnormal expressions of gelatinase are implicated in the pathogenesis of extracellular matrix accumulation in glomerulosclerosis [GS]. Apolipoprotein E [apoE] is an important plasma protein in cholesterol that plays a key role in the progression of GS

Aim: The aim of this work was to study the immunoexpression of gelatinases and apoE in experimentally induced GS

Materials and methods: Twenty male rats were divided into two equal groups: a control group and a GS model group [each n=10]. The GS was induced by an injection of adriamycin [5 mg/kg]. At the end of 4 weeks, the 10 rats in each group were killed and kidney specimens were processed for [histological and immunohistochemical study] biochemical studies

Results: Serum total protein and serum albumin in the GS group were reduced compared with those of the control group [P<0.01]. Compared with the control group, the values of 24-h urine total protein, 24-h urine excretion for albumin, blood urea nitrogen, serum creatinine, and GS index in the GS group were significantly increased [P<0.01]. In the GS group, there was glomerular hypercellularity and hypertrophy with focal obliteration of some capillaries. Interstitial fibrosis and inflammation were detected. The immunostaining for gelatinase was decreased, whereas apoE, transforming growth factor-beta1, and alpha-smooth muscle actin were increased

Conclusion: In induced GS, an increased expression of apoE was associated with decreased expression of gelatinase and this led to accumulation of extracellular material in glomeruli

An Association Study of Apolipoprotein E Gene Polymorphism and Cataracts

PURPOSE: To evaluate the association of apolipoprotein E (APOE) polymorphism and cataracts in the Korean population. METHODS: The present research included participants from a population-based study in Incheon, Korea. A sample of 126 adults genotyped for polymorphisms of APOE underwent a medical interview, an eye examination which included visual acuity testing, slitlamp cataract evaluation and fundus examination. The APOE polymorphism was determined using a polymerase chain reaction method. RESULTS: Eighty-eight participants (69.8%) were diagnosed with cataracts or had undergone cataract surgery in 1 or both eyes, and 38 participants (30.2%) demonstrated no signs of cataract. The frequencies of the APOE genotypes and alleles were not significantly different from the cataract and the control group. APOE epsilon2 carriers were less likely to have cataracts than non-epsilon2 carriers with an odds ratio of 0.367 which was almost statistically significant with the multiple logistic regression analysis (p = 0.052). CONCLUSIONS: There was no significant correlation of APOE genotype and cataracts. However, a slight negative association of APOE epsilon2 and cataracts were found in the Korean population.

Discrepancy in Genotyping of Apolipoprotein E between Allele-Specific PCR and Fluorescence Resonance Energy Transfer or Sequencing / 대한진단검사의학회지

The human apolipoprotein E (APOE) gene contains several single-nucleotide polymorphisms (SNPs) that are distributed across the gene. The genotype of the APOE gene has important implications as a risk factor for various diseases. We observed 2 cases in which the results of allele-specific PCR (AS-PCR) of the APOE gene were not consistent with those of fluorescence resonance energy transfer (FRET) or sequencing analysis. In these cases, genotyping by AS-PCR showed that patients were epsilon2 homozygotes, while sequencing analysis and FRET showed that they were epsilon2/epsilon3 heterozygotes. Herein, we describe the causes of the errors in genotyping and describe the significance of these errors.

Association of Apolipoprotein E Gene Polymorphism With Cognitive Function of the Elderly Residents in a Rural Community

BACKGROUND: It is not clear whether polymorphism of the apolipoprotein E (ApoE) gene influences the cognition of community residents. The aim of this study was to establish the association between ApoE gene polymorphism and cognitive function in an elderly rural community in Korea. METHODS: A total of 388 subjects aged 65 and over were recruited. Demographic characteristics, past history of illness, and scores on the Korean version of the Mini Mental State Examination (K-MMSE), the Geriatric Depression Scale . Short Form (GDS-S), and the Korean version of Instrumental Activities of Daily Living (K-IADL) were evaluated. The lipid profile and ApoE genotype were sampled from 377 of the participants. RESULTS: Of the entire cohort, 75% had less than 6 years of education, and 30% were illiterate. The frequencies of the ApoE epsilon2, ApoE epsilon3, and ApoE epsilon4 alleles were 48 (6.6%), 372 (86.9%), and 49 (6.5%), respectively. The K-MMSE score was much lower in those with two ApoE epsilon3 alleles than in those with only one ( p=0.046). However, the numbers of ApoE epsilon2 alleles (p=0.976) and ApoE epsilon4 alleles (p=0.934) carried by the individual were not associated with K-MMSE score. Both K-IADL (p<0.001) and GDS-S (p<0.001) scores were significantly correlated with K-MMSE score. Grouping of the participants into three groups according to K-MMSE score (i.e., 0-17 , 18-24, and 25-30) also revealed that this score was correlated with K-IADL score (p<0001), GDS-S score (p<0.001), and the ApoE epsilon3 allele (p=0.035). CONCLUSIONS: These results suggest that the ApoE epsilon3 allele has a negative influence on cognitive function (K-MMSE) in this rural community. Surprisingly, we were unable to detect any relationship between the ApoE epsilon4 allele and cognitive function. There was a positive correlation between K-MMSE, K-IADL, and GDS-S scores.

Blood Lipid Levels, Nutrient Intakes and Health-Related Lifestyles of Industrial Male Workers According to Apolipoprotein E Polymorphisms / 대한지역사회영양학회지

The purpose of this study was to investigate the association among nutrient intakes and health-related lifestyles with cardiovascular disease risk assessed by blood lipid profile according to Apolipoprotein E genotypes. Middle-aged industrial male workers who had completed their annual medical examination were recruited and data of 675 subjects who finished the nutrient survey were used in the analysis. Anthropometric parameters, dietary assessment (FFQ), health-related lifestyles and blood profiles were used for statistical analyses. Apo E genotype groups were classified into the following three genotypes: Apo E2 group (including E2/E2, E2/E3, E2/E4), Apo E3 group (including E3/E3), Apo E4 group (including E3/E4, E4/E4). The frequency of Apo E2, E3, and E4 allele were 13.3%, 75.0% and 11.7% respectively. There were no significant differences in the anthropometric parameters depending on different Apo E genotypes. Also, no significant differences in the nutrient intakes were found according to the genotype groups. The nutrient intakes of all subjects were similar to or higher than the level of KDRIs (Dietary Reference Intakes For Koreans) except for intakes of calcium (67.44% of KDRIs), vitamin A (73.83% of KDRIs) and vitamin B2 (78.02% of KDRIs). Also, there were no significant differences of health-related lifestyles according to Apo E genotype groups. As for the lipid profiles, Apo E4 group had significantly higher total and LDL-cholesterol concentrations than the Apo E2 group (p < 0.05). We confirmed that plasma total and LDL-cholesterol concentrations were greatly influenced by Apo E genotypes. However, nutrient intakes and health-related lifestyles were not associated with Apo E genotypes.

Association of apolipoprotein E polymorphisms with serum lipid profiles in obese adolescent / 소아과

PURPOSE: Apolipoprotein E (Apo E) plays a major role in lipoprotein metabolism and lipid transport. Many investigators have described that Apo E polymorphisms is one of the most important genetic determinants for cardiovascular disease. The purpose of this study was to evaluate the association between Apo E polymorphisms and serum lipid profiles in obese adolescent. METHODS: We measured the serum concentrations of glucose, apolipoprotein (Apo) A1, Apo B, total cholesterol (TC), triglyceride (TG), HDL and LDL-cholesterol after overnight fasting in obese adolescent. Apo E polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: 86 obese adolescents participated in this study. The body mass index (BMI) of participants were excess of 95 percentile by age and sex. Male to female ratio was 1.7 and mean age of study group was 16.2+/-1.8 years. Mean BMI was 27.4+/-2.5 kg/m2. The frequency of epsilon2, epsilon3 and epsilon4 allele were 8.1%, 87.2% and 4.7% respectively. Study populations were classified into the following three genotypes 1) Apo E2 group (n=13, 15.1%) carrying either the epsilon2/epsilon2 or epsilon2/epsilon3 2) Apo E3 group (n=65, 75.6%) carrying the most frequent epsilon3/epsilon3 3) Apo E4 group (n=8, 9.3%) carrying either the epsilon3/epsilon4 or epsilon4/epsilon4. No differences were found among Apo E genotypes concerning age, sex, weight, height and BMI. Apo B and LDL-cholesterol concentrations were significantly higher in the Apo E4 group (P<0.05). No association were found between Apo E genotypes and glucose, Apo A1, TC, TG and HDL. CONCLUSIONS: We confirmed that serum concentrations Apo B and LDL-cholesterol were influenced by Apo E genotypes. Apo E polymorphisms seems to influence some alteration of lipid metabolism associated with obesity in adolescent.

Apolipoprotein E Phenotypes and the Relationship Among Lipid Levels, Nutrient Intakes, Lifestyles and Risk Factors Between Subjects with and without Hyperlipidemic Risk

This study was performed to investigate Apolipoprotein E phenotypes and the relationship among lipid levels, nutrient intakes, lifestyles and risk factors between subjects with and without hyperlipidemic risk. The data were collected from 675 industrial male workers who had completed annual medical examination. Compared to the normal group, the hyperlipidemic risk group in Apo E3 and E4 had significantly higher BMI (p < 0.05) and showed significantly higher body fat (%), waist circumference and WHR in all types of Apo E (p < 0.05). In addition, the hyperlipidemic risk group had significantly higher total cholesterol, LDL-cholesterol, triglyceride and AI than the normal group in all types of Apo E (p < 0.05). Intakes of protein, calcium, phosphorus, iron, vitamin A, vitamin B1, vitamin B2, vitamin C and niacin in Apo E3 were significantly lower in the hyperlipidemic risk group than in the normal group (p < 0.05). In the logistic regression analysis, after adjustment for other factors, Apo E2 + E4, waist and WHR were the significant risk factors associated with hyperlipidemia, but protein intakes were associated with significantly lower risks of hyperlipidemia (p < 0.05). In conclusion, genetic factor (Apo E2 or Apo E4), anthropometric index and nutrient intake seem to influence hyperlidemic risk. Further studies and efforts will be needed to evaluate the independent relationships among hyperlipidemic risk factors.

Apolipoprotein E and ACE genetic polymorphism and nephropathy in type 2 diabetic patients / 대한내과학회지

BACKGROUND: The aim of this study was to investigate the association between apo E and ACE genetic polymorphism and diabetic nephropathy. METHODS: One hundred eighteen patients with type 2 diabetes who had a duration of diabetes longer than 8 years were divided into the three apo E groups (E2, E3, E4) and three ACE groups (II, ID, DD). Plasma levels of lipids were measured. The frequency of diabetic nephropathy and clinical and biochemical characteristics were compared among the Apo E and ACE genotype groups. RESULTS: The frequency of overt nephropathy was significantly greater in apo E2 patients with diabetes (46.7%) than apo E3 (16.7%) or apo E4 patients (10.5%). Logistical regression analysis showed that odds ratio of apo E2 and apo E4 genotypes for the presence of overt nephropathy were 4.779 (p<0.01) and 0.643 (p=0.583), respectively. Plasma TG levels were significantly greater in apo E2 patients. This study did not show an association between ACE gene polymorphism and diabetic nephropathy, and no interaction between Apo E and ACE gene polymorphism. CONCLUSION: Apo E2 is a prognostic risk factor for diabetic nephropathy in Korean type 2 diabetes. TG may have an important role of diabetic nephropathy. There were not synergistic effect between Apo E and ACE gene polymorphism in diabetic nephropathy.

Study on apoE gene polymorphism and subclasses of serum high density lipoprotein in type IV hyperlipidemia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>The aim of the study was to investigate apolipoprotein(apo) E polymorphism and its relationship with serum lipids and apolipoprotein, serum high density lipoprotein(HDL) subclasses in patients with type IV hyperlipidemia.</p><p><b>METHODS</b>apoE genotype was assayed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The subclasses of serum HDL in 103 patients with type IV hyperlipidemia and 146 normolipidemic subjects were determined by two-dimensional gel electrophoresis in conjunction with immunodetection method.</p><p><b>RESULTS</b>The apoE3/3 genotype frequency and allele epsilon 3 frequency were both the highest in the frequency distribution profiles of the type IV hyperlipidemia group and the control group. In type IV hyperlipidemia group, the genotype of apoE2 had higher serum HDL-C,apoE, HDL(2a) apoE/apoCIII ratio but lower TG/HDL-C,apoCIII, HDL(3c) levels when compared with the genotype of apoE(3) (P<0.05). In control group, the genotype of apoE(2) had higher serum TG, apoE levels and apoE/aopCIII ratio but lower HDL (3a) level when compared with the genotype of apoE(3) (P<0.05).</p><p><b>CONCLUSION</b>An association of allele epsilon 2 of apoE gene with the maturation of HDL in type IV hyperlipidemia was noted in the study.</p>

Plasma level and genetic variation of apolipoprotein E in patients with lipoprotein glomerulopathy / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Lipoprotein glomerulopathy (LPG) is a renal disease characterized by thrombus-like lipoproteins in the glomerular capillaries and its abnormal lipoprotein profiles with marked elevation of apolipoprotein E (apoE). In this study, 15 Chinese patients with LPG were involed in exploring the association of the genetic variation and its plasma level in the pathogenesis of LPG.</p><p><b>METHODS</b>A retrospective analysis of the clinical and pathological features was made in 15 patients with LPG. Plasma concentrations of apoE were measured with radial immunodiffusion assay. Genetic variations of apoE gene were detected using polymerase chain reaction and restriction fragment length polymorphism. Glomerular deposition of apoA, apoB and apoE in these patients were detected by immunofluorescence staining using monoclonal antibodies.</p><p><b>RESULTS</b>Biochemical profiles of lipids and lipoproteins revealed markedly elevated levels of triglyceride, apoB and apoE, but approximately normal levels of total cholesterol, apoA1 and lipoprotein(a) [Lp(a)], which resembled familial hypertriglyceridemia. Genetic analysis demonstrated that the genotype distribution of apoE were 7 cases with epsilon3/epsilon4, 4 cases with epsilon3/epsilon3 and 2 cases with epsilon2/epsilon3. The other 2 cases (a mother and her son) showed a same distinct band. The band pattern of later 2 cases was quite similar to the apoE variant of Tokyo type. The calculated allele frequency of epsilon 4 was relatively high in cases with LPG in comparison with that in the normal controls. We further divided the 13 patients into three groups according to their genotypes of apoE. Patients with the genotype of apoE epsilon2/epsilon3 showed a lower level of plasma apoE as compared to those with apoE epsilon3/epsilon4 (P < 0.05). The serum level of high-density lipoprotein (HDL) was the lowest in patients with the genotype of apoE epsilon3/epsilon4. No difference was found among the patients with different apoE genotype in the other clinical and pathological characteristics.</p><p><b>CONCLUSIONS</b>The genotype of apoE epsilon3/epsilon4 is the predominant one in Chinese patients with LPG. Patients with this genotype tend to have a higher plasma level of apoE and more severe lipid dysmetabolism. No correlation was found between the genotype of apoE and the clinical features in patients with LPG.</p>

Risk Factors of Cardiovascular Disease in Korean Exceptional Longevity

BACKGROUND: It has been shown that subjects with exceptional longevity and their offsprings have a lower incidence and delayed onset of age-related diseases. Cardiovascular protective effect through over-presentation of Apo E2 with lower LDL cholesterol level, high HDL cholesterol, and larger size of HDL and LDL particle with cholesteryl ester transfer protein(CETP) genetic variation were suggested as a mechanism of less cardiovascular disease in exceptional longevity. Objective of this study is to examine what risk factors of cardiovascular diseases were related with exceptional longevity in Korea. METHODS: One hundred seventeen centenarians, 179 nonagenarians, 61 octogenarian regional controls were visited and joined after informed written consent was obtained. Age was first identified by National Residence Registry with help of regional government and verified by visiting researchers with birth year animal, age of first child and neighbor's connection memory. Detailed interview with questionnaires about health status and life style, physical examination, physical and cognitive function, and blood tests were performed. Data about risk factors of cardiovascular disease was analyzed and compared exceptional longevity group with regional control group and 455 octogenarian control data from 2001 National Health and Nutrition Examination. RESULTS: Hypertension and diabetes history, hypercholesterolemia and hypertriglyceridemia, obesity and abdominal obesity, and physical inactivity ratio of longevity groups were significantly less than control group. Level of homocysteine, and C-reactive protein and low serum HDL cholesterol ratio were not much different between longevity and control group. CONCLUSION: Fewer risk factors and delayed onset of cardiovascular disease were observed in Korean exceptional longevity group. Future research about genetic protective effect of cardiovascular disease in longevity is required.

Relationship of APOE gene polymorphism with subclasses of serum high density lipoprotein in hyperlipidemia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate apolipoprotein E(apoE) polymorphism and its relationship with serum lipids and apolipoprotein, serum high density lipoprotein (HDL) subclasses in patients with hyperlipidemia(HL).</p><p><b>METHODS</b>APOE genotype was assayed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The subclasses of serum HDL in 112 patients with hyperlipidemia and 73 healthy subjects were determined by two-dimensional gel electrophoresis in conjunction with immunodetection method.</p><p><b>RESULTS</b>APOE3/3 genotypes and allele epsilon3 frequency in HL group and control group were both the highest. In HL group, the genotype of APOE2 had higher serum APOE/CIII ratio and lower HDL3b levels, compared with the genotype of APOE3 (P<0.05). In control group, the genotype of apoE2 had higher serum triglycerides, APOE levels and APOE/CIII ratio, compared with the genotype of APOE3 and APOE4 (P<0.05).</p><p><b>CONCLUSION</b>Polymorphism of APOE gene may relate to the distribution of HDL particles.</p>

Relationships of Apolipoprotein E Genotypes with Vascular Risk Factors in Patients with Alzheimer's Disease

BACKGROUND: Apolipoprotein E-epsilon4 (APOE-epsilon4) is a known genetic risk factor for Alzheimer's disease (AD), but its relationship with vascular risk factors is still controversial. METHODS: We retrospectively studied 56 probable AD patients diagnosed by the National Institute of Neurological and Communicative Disorders and Stroke and the Alzheimer's Disease and Related Disorder's Association (NINCDS-ADRDA) criteria. RESULTS: The frequencies of APOE-epsilon2, 3, and 4 were 6.3%, 69.6%, and 24.1% in patients with AD. Compared to the no APOE-epsilon4 group (n=35), the APOE-epsilon4 group (n=21) revealed a higher frequency of male gender with no difference in age, educational level, dementia onset age, severity of dementia (CDR and K-MMSE), the frequencies of vascular risk factors (hypertension, diabetes, hypercholesterolemia), and total cholesterol level. High density lipoprotein (HDL)-cholesterol level was 36+/- 8 in the APOE-epsilon4 group and 43+/-11 in the no APOE-epsilon4 group with statistical significance (Student's t-test, p=0.02). In adjusting for sex, the APOE-epsilon4 group still had a significantly lower HDL-cholesterol level than the no APOE-epsilon4 group (p=0.047). CONCLUSIONS: These results suggest that there may be the genetic influence of APOE-epsilon4 on serum HDLcholesterol metabolism in AD patients.

Analysis of the APOE Alleles in Mental Retardation without Chromosome Anomaly / 대한해부학회지

APOE (apolipoprotein E) has been as a risk factor for Alzheimer's disease. Studies demonstrated that there was no significant differences in APOE distribution compared with controls and there was also a report showing a lower frequency of APOE E4 allele in an elderly Down's syndrome population than in a control group. We examined the distribution of APOE alleles in people with mental retardation having normal chromosome constitute. We studied 55 mental retardation individuals without chromosome anomaly and compared the frequency of APOE allele with 89 control samples. The APOE genotype was determined by HhaI restriction enzyme analysis of DNA amplified by polymerase chain reaction. The frequencies of APOE alleles in mental retardation patients were 3.6% (epsilon2), 88.2% (epsilon3), and 8.2% (epsilon4). The frequencies in controls were 10.1% (epsilon2), 73.6% (epsilon3), and 16.3% (epsilon4). The frequencies of APOE epsilon2 and epsilon4 alleles in mental retardation patients were significant lower than that in controls (p<0.05), but the frequency of APOE epsilon3 allele was higher reversely (p<0.01). These results suggest that APOE alleles are associated with mental retardation although the biological role of APOE in pathogenesis of mental retardation is unknown.

Polymorphisms of Apolipoprotein B and Apolipoprotein E in Hypobetalipoproteinemic Korean / 대한진단검사의학회지

BACKGROUND: Hypobetalipoproteinemia (HBL) is characterized by plasma concentration of lowdensity lipoprotein cholesterol below the fifth percentile in a healthy population. It has been suggested that HBL may be associated with apolipoprotein E (apoE) and apoB polymorphisms, such as apoB 8344 and apoB EcoRI. METHODS: Patients with HBL (n=51) and age-and- sex-matched healthy controls (n=136) were compared for apoE genotyping, apoB 8344 polymorphism and apoB EcoRI polymorphism. ApoE genotyping and apoB EcoRI polymorphism were determined by polymerase chain reaction (PCR) restriction fragment-length polymorphism. ApoB 8344 polymorphism was determined by the PCR-amplification refractory mutation system. We also Search truncated apoB with ECL western blotting in 23 HBL subjects. RESULTS: We could not find any truncated form of apoB. We found significant elevation of the apoE epsilon2 allele frequency of 0.147 in HBL cases compared with 0.063 in healthy controls (P=0.018). The ApoB 8344 polymorphism showed no significant difference between the HBL and the normal control groups. There were no significant apoB EcoRI allele frequency differences between the HBL and the normal groups. There were no significant apoB EcoRI allele frequency differences between the HBL and the normal groups. CONCLUSIONS: We could not find any relationship between HBL either with apoB 8344 or apoB EcoRI polymorphisms, but apoE epsilon2 allele seemed to be associated with HBL in Koreans.

Apolipoprotein E Polymorphism in Patients with Ischemic Cerebrovascular Disease

BACKGROUND: The possible role of apolipoprotein E (APOE for gene, apoE for protein) allele in atherosclerotic diseases is not clearly understood. For the putative role of APOE genotypes, we examined APOE polymorphism among patients with stroke. METHODS: A total of 202 ischemic stroke patients were involved in this study. The genotype DNA was isolated from whole blood and the APOE alleles were determined by polynicrase chain reaction. RESULTS: The genotype of APOE epsilon3/3 was the most common allele in the stroke group and the control group. The frequencies of APOE epsilon2, epsilon3, epsilon4 allele in stroke group were 0.052, 0.851, and 0.097, respectively. There was no significant difference in APOE genotypes between the stroke group and the control group. No significant associations lions were found for the APOE genotypes and the serum lipid profiles. CONCLUSION: These findings suggest that APOE was not related to the stroke,

Type III hyperlipoproteinemia associated with generalized tuberoeruptive xanthomas / 대한임상병리학회지

A 61-year-old female patient presented with the type III hyperlipoproteinemia (HLP) in association with generalized eruptive and tuberous xanthomas. She had hypercholesterolemia and hypertriglyceridemia, and extensive coronary atherosclerosis. Further studies revealed a positive standing plasma test, abnormal beta-very low density lipoprotein (VLDL) on lipoprotein electrophoresis, markedly elevated very low density lipoprotein-cholesterol (VLDL-C) to plasma triglycerides (TG) ratio (0.86) and homozygosity for apolipoprotein E2. After about one year of therapy with lipid-lowering agents and diet restriction, a significant reduction of serum cholesterol and TG was observed and the yellowish orange discolorations of palmar creases disappeared from her palms.

Apolipoprotein E Genotyping in the Diagnosis and Differential Diagnosis of Alzheimer's Disease

BACKGROUND: There is a growing interest in the use of genetic markers in predicting the various types of dementia such as Alzheimer's disease (AD) and vascular dementia (VD). It is important to differentiate AD from other causes of dementia because the early diagnosis of AD or VD could lead to early therapeutic intervention. This study is to confirm the association of the apolipoprotein E (Apo E) epsilon 4 allele with AD and, to confirm the differential diagnostic values of Apo E4 in the various causes of dementia. METHODS: One hundred seventy-seven patients participated in the study. Fifty-one had a diagnosis of AD, 68 with VD, 18 with mixed dementia, 17 with other dementia, and 23 controls with no diagnoses of dementia. Patients with AD and VD met the criteria of NINCDS-ADRDA and NINDS-AIREN respectively. The genomic DNA was isolated from whole blood and the Apo E allele was determined by polymerase chain reactions. RESULTS: The Apo E4 allele frequency in the AD group was 21.6% and was significantly different (p<0.05) from those of non-demented controls (4.3%) or VD (8.1%). The age of onset of AD was delayed by the presence of the Apo E2 allele and by the absence of Apo E4 allele, although was not statistically significant. The severities of dementia assessed by MMSE were not different among groups with different Apo E genotypes, implying that factors other than Apo E might be involved in the progression of AD. CONCLUSIONS: The Apo E genotypes can be a valuable genetic marker for predicting the risk for AD in Korea and also for differentiating AD from VD cases.

Influences of the Apolipoprotein E Polymorphism on the Development of Coronary Artery Disease and on Serum Lipids in the Korean Males

BACKGROUND: Apo E lipoprotein is polymorphic and exists in three common isoforms (E2, E3 and E4), which are the gene products of three apo E alleles, e2, e3 and e4. Apo E lipoprotein plays an important role in the regulation of the lipid metabolism through its ability to bind to receptors. Depending on the genotypes apo E polymorphism is either protective or increases risk for atherosclerosis and coronary artery disease. The purpose of this study is to evaluate 1) the association between apo E allele and the development of coronary artery disease, 2) the association between apo E alleles and dyslipidemia in Korean males. METHODS: We studied 241 patients with angiographically verified coronary artery disease and 257 male subjects without evidence of coronary artery disease. Apo E genotyping was determined with the INNO-LiPA Apo E kit (Innogenetics, Belgium), which is based on reverse hybridization. RESULTS: There was a higher frequency of the apo e4 allele in subjects with coronary artery disease than in normal controls. The frequencies of apo E genotype were not significantly associated with apo e2 were associated with higher levels of triglyceride and lower LDL, and the subjects with apo e4 had lower levels of HDL cholesterol. CONCLUSION: ApoE polymorphism is a genetic marker for risk of the development of coronary artery disease and an important determinant of dyslipidemia.