• Title, Summary, Keyword: Apolipoprotein E

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Genetic Polymorphisms of Apolipoprotein E in Korean Schizophrenic Patients (한국인 정신분열병 환자에서 Apolipoprotein E 유전자의 다형성)

  • Cho, Gwang-Hyun;Chung, Sang-Geun;Hwang, Ik-Keun
    • 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.

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Apolipoprotein E Polymorphism and Cognitive Function Change of the Elderly in a Rural Area, Korea (일개 농촌지역 노인의 아포지단백 E 다형성과 인지기능 변화)

  • Kim, Sang-Kyu;Hwang, Tae-Yoon;Lee, Kyeong-Soo;Kang, Pock-Soo;Cho, Hee-Soon;Bae, Young-Kyung
    • 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.

The Effect of Apolipoprotein E Polymorphism on Hypertension in Korean Adults (고혈압과 apolipoprotein E의 다형성)

  • Choi, Dae-Kyung;Kim, Geum-Ha;Park, Sang-Hyun;Im, Jeong-Soo
    • 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.

A Prospective Study on an Association between Apolipoprotein E ${\varepsilon}4$ and Cognitive Change in Community-Dwelling Elders with Alzheimer's Disease (일 지역 알츠하이머병 노인에서 Apolipoprotein E ${\varepsilon}4$와 인지변화의 연관에 대한 전향적 연구)

  • Kang, Min Sung;Moon, Seok Woo
    • 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.

Apolipoprotein E Polymorphism in the Korean Population

  • Eom Yong-Bin;Jo Yoon-Kyung;Lee Duk-Chul;Im Jee-Aee
    • 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.

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Apolipoprotein E Phenotypes and the Relationship Among Lipid Levels, Nutrient Intakes, Lifestyles and Risk Factors Between Subjects with and without Hyperlipidemic Risk (Apolipoprotein E 다형성과 고지혈증 위험 유무에 따른 혈중 지질농도, 영양소 섭취, 생활습관 및 위험요인과의 관계)

  • Lee, Jae-Eun;Cho, Sang-Woon;Kang, Ji-Yeon;Paek, Yun-Mi;Choi, Chang-Sun;Park, Yoo-Kyoung;Choi, Tae-In
    • 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.

Study on the Relationship between Polymorphism in Apolipoprotein E Gene and Korean Ischemic Cerebrovascular Disease Patients

  • Kim, Do-Hwan;Park, Sae-Wook;Lee, Min-Goo;Lee, Jeong-Mi;Lee, In;Cho, Kwang-Ho;Moon, Byung-Soon
    • 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.

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ApoE4-Induced Cholesterol Dysregulation and Its Brain Cell Type-Specific Implications in the Pathogenesis of Alzheimer's Disease

  • Jeong, Woojin;Lee, Hyein;Cho, Sukhee;Seo, Jinsoo
    • 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.

Association of apolipoprotein E polymorphisms with serum lipid profiles in obese adolescent (비만아에서 고지혈증과 Apolipoprotein E 다형성의 관계)

  • Yoon, Jung Min;Lim, Jae Woo;Cheon, Eun Jung;Ko, Kyoung Og
    • 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.

Isolation, Molecular Phylogeny, and Tissue Distribution of Four cDNAs Encoding the Apolipoprotein Multigene Family in Barred Knifejaw, Oplegnathus fasciatus (Teleostei, Perciformes)

  • Kim, Keun-Yong;Cho, Young-Sun;Kim, Sung-Koo;Nam, Yoon-Kwon
    • Fisheries and aquatic sciences
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    • v.11 no.2
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    • pp.88-97
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    • 2008
  • Lipoproteins are complexes of lipids and specific apolipoproteins that are involved in lipid transport and redistribution among various tissues. In this study, we isolated full-length apolipoprotein cDNA sequences encoding apolipoprotein A-I (apoA-I), apoE, apoC-II, and apo-14 kDa in barred knifejaw, Oplegnathus fasciatus. In addition, we reconstructed phylogenetic trees and investigated mRNA tissue distributions. Alignment analyses of amino acid sequences revealed that secondary structures of the polypeptides apoA-I, apoE, and apoC-II in barred knifejaw are well conserved with their teleostean and mammalian counterparts in terms of characteristic tandem repetitive units forming amphipathic ${\alpha}$-helices. Both the sequence alignment data and cleavage sites of apo-14 kDa indicated a clear differentiation between Percomorpha and Cypriniformes. Meanwhile, the phylogenetic trees of apolipoprotein sub-families suggested that the common ancestor prior to the split of the Actinopterygii (ray-finned fishes) and Sarcopterygii (tetrapods) would have possessed the primordial protein-encoding genes. Tissue distribution of each apolipoprotein transcript determined by semi-quantitative RTPCR showed that barred knifejaw apoA-I transcripts were more or less ubiquitously expressed in the liver, intestines, brain, muscle, spleen, and kidney. The most striking difference from previous observations on barred knifejaw was the ubiquitous expression of apoE across all somatic tissues. Barred knifejaw apoC-II showed tissue-specific expression in the liver and intestines, while the liver and brain were the major sites of apo-14kDa mRNA synthesis.