• Korean Journal of Biological Psychiatry
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• v.10 no.2
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• pp.116-120
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• 2003

Objectives:Although polymorphisms of apolipoprotein E have been investigated in many neuropsychiatric disorders, results were controversial and even contradictory. The purpose of this study was to investigate the genotypes of apolipoprotein E in schizophrenia and healthy controls, and to compare them in two groups in terms of distribution of apolipoprotein E genotype and allele. Method:Using polymerase chain reaction and amplified refractory mutation system, apolipoprotein E genotypes were identified in 77 schizophrenics and 115 healthy control persons. Results:The results were as follows 1) When genotypes of apolipoprotein E were classified into ${\varepsilon}2/2$, ${\varepsilon}2/3$, ${\varepsilon}2/4$, ${\varepsilon}3/3$, ${\varepsilon}3/4$, ${\varepsilon}4/4$ according to phenotypes, there were no statistical differences in genotypes between two groups 2) In terms of allele frequency, there were also no statistical differences between two groups Conclusion:These results suggest that genotypes and alleles of apolipoprotein E seem to be unrelated to the pathogenesis of schizophrenia.

• Journal of Preventive Medicine and Public Health
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• v.42 no.4
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• pp.261-266
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• 2009

Objectives : The aim of this study is to examine the cognitive function change related to aging, the incidence of cognitive impairment, and the association between apolipoprotein E polymorphism and cognitive impairment through a follow-up of the elderly with normal cognitive ability at baseline. Methods : Two hundred and fifteen subjects aged 65 and over were surveyed in February, 1998 (baseline survey), and their cognitive function was assessed again in 2003 1st follow-up) and the once again in 2006 (2nd follow-up). Ninety one subjects completed all surveys up through the 2nd follow-up and their cognitive function scores using MMSE-K (Korean Version of the Mini-Mental State Examination) and the distribution of apolipoprotein E allele were analyzed. Results : The cognitive function scores decreased with aging and the difference between baseline and the 2nd follow-up scores of the study increased with the age group. The incidence rate of cognitive impairment through an 8-year follow-up was 38.5% and higher in older age groups. Age was the only significant factor for incidence of cognitive impairment, but there was no significant association between apolipoprotein E genotype and incidence of cognitive impairment. Conclusions : The cognition of the elderly decreased with aging and the association of apolipoprotein E genotype with incidence of cognitive impairment was not significant in this study. To confirm the association between apolipoprotein E polymorphism and incidence of cognitive impairment further studies will be needed.

• Journal of agricultural medicine and community health
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• v.32 no.2
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• pp.87-96
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• 2007

Background: Apolipoprotein E has been one of the most thoroughly studied genetic polymorphisms, particularly for its effects on lipid profiles and coronary heart disease risk. This study investigated the relationship between the apolipoprotein E polymorphism and essential hypertension in a Korean population. Methods: The subjects (n=1,243) were participants in a population-based study in Incheon metropolitan City, Korea. The apolipoprotein E polymorphism was determined using a polymerase chain reaction method. Results: The frequencies of the genotypes did not differ significantly between the hypertensive groups (60.0% ε2 / ε2, 30.8% ε2 / ε3, 44.4% ε2 / ε4, 33.3% ε3 / ε3, 32.3% ε3 / ε4, and 15.4% ε4 / ε4; p=0.498). After adjusting for other risk factors, genotypes were not associated with hypertension(OR 5.74, 95% CI 0.81-40.76, ε2 / ε2 vs. ε3 / ε3; OR 0.94, 95% CI 0.60-1.47, ε2 / ε3 vs. ε3 / ε3; OR 1.21, 95% CI 0.30-4.89, ε2 / ε4 vs. ε3 / ε3; OR 0.79, 95% CI 0.56-1.13, ε3 / ε4 vs. ε3 / ε3; OR 0.29, 95% CI 0.06-1.45, ε4 / ε4 vs. ε3 / ε3). Conclusions: These findings suggest that the apolipoprotein E polymorphism is not associated with hypertension.

• Korean Journal of Biological Psychiatry
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• v.20 no.3
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• pp.104-110
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• 2013

Objectives : The aim of this study was to examine the prospective impact of the apolipoprotein E (APOE) ${\varepsilon}4$ on cognitive performance in the community-dwelling elderly individuals with Alzheimer's disease (AD). Methods : The total number of subjects was 30 (12 men and 18 women) who were diagnosed with AD from a Korean project of "Early Detection of Dementia". People aged 65-85 years were included in the analysis. The eight neuropsychological domains from the Korean version of Consortium to Establish a Registry of Alzheimer's Disease (CERAD-K) were conducted to test subjects. They have been followed at 24-month intervals with the same assessments at each interval. Their cognitive performance at 2 year intervals was compared by the occurrence of the APOE ${\varepsilon}4$. Results : The impact of ${\varepsilon}4$ allele was significant in the Word List Memory Test (WLMT, F = 4.345, df = 1, p = 0.021) and Word List Recall Test (WLRT, F = 5.569, df = 1, p = 0.033). Conclusions : The APOE ${\varepsilon}4$ allele was significantly correlated especially with verbal episodic memory domain in community-dwelling elders diagnosed with AD.

• Biomedical Science Letters
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• v.11 no.4
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• pp.429-434
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• 2005

Apolipoprotein E (apoE) restriction isotyping used oligonucleotides to amplify apoE gene sequences containing amino acid positions 112 and 158. The amplification products were digested with HhaI and subjected to electrophoresis on $4\%$ agarose gel. Each of the isoforms was distinguished by a unique combination of HhaI fragment sizes that enabled unambiguous typing of all homozygotic and heterozygotic combinations. HhaI cleaves at GCGC encoding 112arg (E4) and 158arg (E3, E4), but does not cut at GTGC encoding 112cys (E2, E3) and] 58cys (E2). DNA was isolated from 72 study participants and apoE genotypes were determined utilizing the polymerase chain reaction and restriction isotyping. In the entire group of subjects, $38 (52.8\%)$ had apo E4/4 or E3/4 (Group E4), $28(38.9\%)$ had the apo E3/3 genotype (Group E3) and $6(8.3\%)$ had apo E2/2 or E2/3 (Group E2). This genotypic information may help to identify individuals at increased risk for several diseases.

• Journal of Nutrition and Health
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• v.41 no.5
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• pp.402-413
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• 2008

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.

• The Journal of Korean Medicine
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• v.24 no.4
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• pp.113-119
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• 2003

The association between apolipoprotein E (apo E) gene polymorphism and ischemic cerebrovascular disease (ICVD) has been controversial. These controversies may be due to inaccurate classification of patients and ethnic differences. We investigated the association between apo E genotypes and ICVD patients by case-control study in a Korean population. The association between apo E polymorphism and ICVD was examined in 121 patients with ICVD and 132 controls without ICVD. The E3/E4 phenotype was more frequent in control subjects (23.8％) than in patients (13.0％) (p<0.05). The E2/E3 phenotype was more frequent in patients (14.8％) than in control subjects (10.8％), but the difference was not statistically significant (p>0.05). These results suggest that the E4 allele may be a protective factor against early vascular morbidity, and the E2 allele may be a risk factor for cerebrovascular morbidity.

• Journal of Nutrition and Health
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• v.31 no.9
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• pp.1481-1497
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• 1998

The purpose of this study was to determine the relation between serum lipid profiles, apolipoprotein E phenotype, and dietary patterns in a cross-section of healthy individuals from Cheju-Do. Age, gender, anthropometric measurements, blood pressure, dietary consumption, drinking / smoking habits and menopausal status were surveyed. Total cholesterol, LDL-cholesterol, HDL-cholesterol, triglyceride, fasting blood glucose, and insulin levels were measured from overnight fasting blood. The study involved a total of 286 individuals(147 men and 139 women) between the ages of 20 and 60 years old. All of the subjects were recruited from a population of healthy individuals living in Cheju-Do. The results of the study are as follows : 1) Among the males, those in their 20's had the maximum food intake, while those in their 40's had the minimum food intake. For the females, food intake was the highest for those in their 30's. Energy and nutrient intakes were directly proportional to the amount of food intake. Men in their 30's were heavier than other men and women in their 40's were heavier than other women. The activity index for men in their 20's and 30's appeared to be lower than that of men above 40. The activity index of women in their 20's appeared to be lowest among all aged groups, and the index appeared to increase from the age of 30 onwards. 2) In terms of changes In serum constituents with age, men in their 40's appeared to have the highest levels of serum constituents such as lipids, glucose, and insulin. Men in their 50's showed the highest levels of serum LDL-cholesterol and glucose. Men in their 30's showed peak levels of serum triglycerides. On the other hand, women in their 50's appeared to have peak levels of serum total cholesterol, LDL-cholesterol, and triglycerides. There was no ch:ange with age in HDL-cholesterol and insulin levels for men and women. The percentage of the subjects had the following apo E phenotypes : E3/3, 91.3% ; E3/2, 5.4% ; E4/3, 2.5% ; E4/2, 0.7%. Lee's reserch with Korean female college students showed that the percentage of ApoE3/3, E3/2, E 4/2, E4/3, and E4/4 were 84.8%, 6.7%, 6.7%, 0.9%, 0.9%, respectively. The number of samples with ApoE mutation was so small that there was no statistical significance in the relation between apolipoprotein E phenotype and se겨m lipids. 3) To investigate the relati onship between weight and serum constituents, the subjects of this study were divided into three groups by BMI underweight, normal weight, and overweight. The serum constituents of men and women below the age 40 in the overweight groups belonged to the normal domain. On the other hand, serum cholesterol levels of both men and women above the age 40 in the overweight groups remained in the borderline-high region(above 200mg/dl), and the mean value of LDL-cholesterol(above 130mg/dl) and triglycerides of men were above normal. Fasting blood glucose levels also remained in the borderline-high region. Total cholesterol levels of women above the age 40 in the overweight group was in the borderline-high region. (Korean J Nutrition 31(9) : 1481-1497, 1998)

• Molecules and Cells
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• v.42 no.11
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• pp.739-746
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• 2019

Significant knowledge about the pathophysiology of Alzheimer's disease (AD) has been gained in the last century; however, the understanding of its causes of onset remains limited. Late-onset AD is observed in about 95% of patients, and APOE4-encoding apolipoprotein E4 (ApoE4) is strongly associated with these cases. As an apolipoprotein, the function of ApoE in brain cholesterol transport has been extensively studied and widely appreciated. Development of new technologies such as human-induced pluripotent stem cells (hiPSCs) and CRISPR-Cas9 genome editing tools have enabled us to develop human brain model systems in vitro and readily manipulate genomic information. In the context of these advances, recent studies provide strong evidence that abnormal cholesterol metabolism by ApoE4 could be linked to AD-associated pathology. In this review, we discuss novel discoveries in brain cholesterol dysregulation by ApoE4. We further elaborate cell type-specific roles in cholesterol regulation of four major brain cell types, neurons, astrocytes, microglia, and oligodendrocytes, and how its dysregulation can be linked to AD pathology.

• Clinical and Experimental Pediatrics
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• v.51 no.1
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• pp.42-46
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• 2008

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 $16.2{\pm}1.8\;years$. Mean BMI was $27.4{\pm}2.5kg/m^2$. The frequency of ${\varepsilon}2$, ${\varepsilon}3$ and ${\varepsilon}4$ 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 ${\varepsilon}2/{\varepsilon}2$ or ${\varepsilon}2/{\varepsilon}3$ 2) Apo E3 group (n=65, 75.6%) carrying the most frequent ${\varepsilon}3/{\varepsilon}3$ 3) Apo E4 group (n=8, 9.3%) carrying either the ${\varepsilon}3/{\varepsilon}4$ or ${\varepsilon}4/{\varepsilon}4$. 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.