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.
Apolipoprotein E2 ; Apolipoprotein E3 ; Apolipoprotein E4 ; Apolipoproteins E ; Apolipoproteins* ; Diabetic Nephropathies ; Genotype ; Humans ; Odds Ratio ; Plasma ; Polymorphism, Genetic* ; Risk Factors

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.
Activities of Daily Living ; Aged ; Alleles ; Apolipoprotein E2 ; Apolipoprotein E3 ; Apolipoproteins ; Apolipoproteins E ; Cognition ; Cohort Studies ; Depression ; Genotype ; Humans ; Rural Population

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.
Alleles ; Apolipoprotein E2 ; Apolipoprotein E3 ; Apolipoprotein E4 ; Apolipoproteins ; Apolipoproteins E ; Calcium ; Cardiovascular Diseases ; Genotype ; Humans ; Life Style ; Male ; Plasma ; Riboflavin ; Vitamin A

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,
Alleles ; Apolipoprotein E2 ; Apolipoproteins E ; Apolipoproteins* ; DNA ; Genotype ; Humans ; Lions ; Stroke

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.
Adolescent ; Alleles ; Apolipoprotein A-I ; Apolipoprotein E2 ; Apolipoprotein E3 ; Apolipoprotein E4 ; Apolipoproteins ; Apolipoproteins B ; Apolipoproteins E ; Body Mass Index ; Cardiovascular Diseases ; Cholesterol ; Fasting ; Female ; Genotype ; Glucose ; Humans ; Lifting ; Lipid Metabolism ; Lipoproteins ; Male ; Obesity ; Research Personnel

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.
Alleles ; Apolipoprotein E2/genetics ; Apolipoprotein E3/genetics ; Apolipoproteins E/*genetics ; *Fluorescence Resonance Energy Transfer ; Genotype ; Homozygote ; Humans ; *Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Risk Factors ; *Sequence Analysis, DNA

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.
Alleles ; Apolipoprotein E2 ; Apolipoprotein E4 ; Apolipoproteins E ; Apolipoproteins* ; Atherosclerosis ; Cholesterol, HDL ; Coronary Artery Disease* ; Coronary Vessels* ; Dyslipidemias ; Genetic Markers ; Genotype ; Humans ; Lipid Metabolism ; Lipoproteins ; Male* ; Protein Isoforms ; Triglycerides

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.
Aged ; Alleles* ; Alzheimer Disease ; Apolipoprotein E2 ; Apolipoprotein E3 ; Apolipoproteins E* ; DNA ; Down Syndrome ; Genotype ; Humans ; Intellectual Disability* ; Polymerase Chain Reaction ; Restriction Mapping ; Risk Factors

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.
Alleles ; Apolipoprotein E2 ; Apolipoproteins B ; Apolipoproteins E ; Apolipoproteins* ; Blotting, Western ; Cholesterol ; Gene Frequency ; Humans ; Hypobetalipoproteinemias ; Lipoproteins ; Plasma ; Polymerase Chain Reaction

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.
Age of Onset ; Alleles ; Alzheimer Disease* ; Apolipoprotein E2 ; Apolipoprotein E4 ; Apolipoproteins E ; Apolipoproteins* ; Dementia ; Dementia, Vascular ; Diagnosis* ; Diagnosis, Differential* ; DNA ; Early Diagnosis ; Gene Frequency ; Genetic Markers ; Genotype ; Humans ; Korea ; Polymerase Chain Reaction