• 대한임상검사과학회지
• /
• 제36권2호
• /
• pp.110-114
• /
• 2004

Apolipoprotein E is the major lipid-carrier protein in the brain, and several studies provided evidence that apolipoprotein E(ApoE) epsilon4 allele can be considered a genetic risk factor for Alzheimer's disease(AD). Inheritance of the APOE gene has three alleles: ${\varepsilon}2$, ${\varepsilon}3$ and ${\varepsilon}4$. There are six possible genotypes: ${\varepsilon}2/{\varepsilon}2$, ${\varepsilon}3/{\varepsilon}3$, ${\varepsilon}4/{\varepsilon}4$, ${\varepsilon}2/{\varepsilon}3$, ${\varepsilon}2/{\varepsilon}4$, ${\varepsilon}3/{\varepsilon}4$. AD is characterized by a progressive loss of function and death of nerve cells in several areas of the brain. The ${\varepsilon}4$ allele is associated with a risk for developing AD. People with the ${\varepsilon}4/{\varepsilon}4$ genotype have the highest risk, but people with the ${\varepsilon}2/{\varepsilon}4$ or ${\varepsilon}3/{\varepsilon}4$ genotypes are also likely to develop the disease. 64.3% of people carry the is ${\varepsilon}3/{\varepsilon}3$ genotype, 22.1% carry the second ${\varepsilon}3/{\varepsilon}4$ genotype but, ${\varepsilon}2/{\varepsilon}2$ genotype is not usually found of people carry the 3.6% is ${\varepsilon}4/{\varepsilon}4$ genotype in a total of a test group of 140 people. The ratio of ${\varepsilon}4/{\varepsilon}4$ genotype related directly with AD is less than the ${\varepsilon}3/{\varepsilon}3$ genotype, but the ${\varepsilon}2/{\varepsilon}4$ and ${\varepsilon}3/{\varepsilon}4$ genotype ratio of indirect AD risk is 25.7% in the group of people, regardless. Thus, we have referred to the benefit from the treatment of AD through apoE genotype diagnosis.

• 대한한의학회지
• /
• 제24권4호
• /
• pp.102-112
• /
• 2003

The homozygous deletion allele of the angiotensin converting enzyme gene (ACF/DD), homozygous threonine allele of the angiotensinogen gene (AGN/TT), and the 4 allele of the apolipoprotein E gene (apoE/4) are reported to be associated with ischemic heart disease. Ischemic cerebrovascular disease (ICVD) is another atherosclerotic disease, and the effects of these polymorphisms on ICVD have been confusing. In this study, I investigated whether ACF/DD, AGN/TT, and apoE/4 genotypes are associated with ICVD and whether genetic risk is enhanced by the effect of one upon another. I ascertained these genotypes in patients with ICVD (n=121) diagnosed by brain computed tomography. Control subjects for the ICVD were randomly selected from subjects matched for age, gender, and history of hypertension with patients. Frequency of ACF/DD genotype was somewhat higher in the patients with ICVD than in the controls (18％ vs. 15％). Incidence of ICVD was higher in subjects with the apoE/4/4 genotype than in the other genotypes (50％ vs. 27-29％). Incidence of ICVD was much higher in subjects with the AGN/TT genotype than in AGN/MM genotype (36％ vs. 17％). Furthermore, the AGN/TT genotype greatly increased the relative risk for ICVD in the subjects with ACF/DD genotype (80.0％ vs. 20.0％, P=0.089). Finally, incidence of ICVD was much higher in the subjects with both apoE/2/4 and AGN/TT genotype than in the other genotypes (83.3％ vs. 16.7％, P=O.095). These results suggest that AGN/TT enhances the risk for ICVD associated with ACF/DD and apoE/2/4.

• 생물정신의학
• /
• 제10권2호
• /
• pp.116-120
• /
• 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
• /
• 제42권4호
• /
• pp.261-266
• /
• 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.

• 대한의생명과학회지
• /
• 제11권4호
• /
• pp.429-434
• /
• 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.

• Childhood Kidney Diseases
• /
• 제5권2호
• /
• pp.87-99
• /
• 2001

목 적 : 본 연구는 소아 미세변화 신증후군 환자와 IgAN에서 apoE 유전자형의 다형성을 알아보고, 스테로이드 반응과 빈발 재발 신증후군에서 apo-E 유전자형의 연관성을 관찰하므로 신증후군 예후인자로의 가능성을 밝히고, 신증후군에서 나타나는 고지질혈증과의 연관성을 알아보고자 하였다. 대상 및 방법 : 43명의 소아 신증후군 환자와 15명의 IgA신병증 한자를 대상으로 apo-E 유전자형을 조사하였다. 대조군은 50명의 혈연관계가 없는 건강한 혈액 공여자를 대상으로 하였다. Genomic DNA는 standard procedure에 따라 말초혈액의 백혈구로부터 분리하였다. 결 과 : 신증후군 환자에서 대조군보다 e4의 빈도가 유의하게 높았다(P<0.01). 그러나 IgAN에서는 e2가 대조군보다 2.6배나 높았다(P<0.01). 빈발재발군 신증후군에서 e4의 빈도가 대조군 보다 4.6배, 비재발군 신증후군 보다 2배 높았다. 특히 e4/4는 빈발 재발군에서만 3명이 발견되었다. apo-E 유전자형에 따른 혈중 알부민, 콜레스테롤, 지질을 비교하였으나 정상 E3군과 E4 변이형에서 유의한 차이는 없었다(P> 0.05). 결 론 :소아 미세변화 신증후군에서 apo-E 유전자형의 연구에서 e4가 대조군 보다 높은 빈도를 보였으며, IgAN에서는 e2와의 연관성을 보였다. e4 유전자형이 특히 빈발 재발군에서 비재발군에서 보다 2배나 높았으며, e4 homozygote는 빈발 재발군에서만 나타나 신증후군의 빈발재발과 스테로이드 의존성의 예후인자의 이용할 수 있으리라 생각된다.

• 동의생리병리학회지
• /
• 제18권4호
• /
• pp.1192-1198
• /
• 2004

Sasang Constitutional Medicine is a major branch of Korean Traditional Medicine. The differences of disease susceptibility to be shown in Sasang constitution may be due to genetic factors. Therefore, I examined interrelationship among cerebral infarction (CI), apolipoprotein E (apo E) gene polymorphism, and Sasang constitutional classification. Apo E is a key protein modulating the highly atherogenic apoB containing lipoproteins and is a candidate gene for the development of coronary artery disease (CAD). The ε2 and/or ε4 alleles were the first to be implicated in premature CAD, which resulted in this polymorphism being extensively studied. I investigated the association between apo E genotype and CI by case-control study in a Korean population. I also classified CI patients and control group into groups according to Sasang Constitutional Medicine. 218 CI patients and 379 controls without CI were examined. Apo E genotype was determined by 8% polyacrylamide gel separation after DNA amplification. A frequency of apo E ε3/ε3 in the apo E genotype distribution was higher in the CI patients compared with that in controls. Also, it was widely known that Taeumin was easily attacked with CI, but there was no association between apo E polymorphim and Taeumin. However, the Taeumin constitution did not enhance the relative risk for CI in the subjects with apo E ε2 and/or ε4 alleles. No differences in the apo E genotypes frequencies were observed in the Taeumin compared with that in the other constitutions. In addition, I investigated whether the DD(deletion/deletion) or ID(insertion/deletion) genotype of angiotensin converting enzyme (ACE) gene, a candidate gene for CI, was associated with CI, Taeumin constitution, and apo E polymorphism. As a result, the frequency of Taeumin constitution was significantly higher in CI patients with both apo E ε3/ε4 and ACE ID/DD genotypes than in the remaining Sasang constitutions. In summary, it was concluded that the apo E polymorphism is a major risk factor for CI in Koreans and the ACE ID/DD genotype enhanced the relative risk for CI in the subjects with apo E ε3/ε4 genotype and Taeumin constitution.

• 대한한의학회지
• /
• 제24권4호
• /
• pp.25-33
• /
• 2003

lridology, a form of complementary and alternative medicine (CAM), is the diagnosis of medical conditions through noting irregularities of the pigmentation in the iris. lridological constitution has a strong familial aggregation and is implicated in heredity. Apolipoprotein E (apoE) gene polymorphism is one of the most well studied genetic markers of vascular disease. I investigated the relationship between iridological constitution and apoE polymorphism. I classified 87 hypertensive patients with family history of cerebral infarction and 79 controls according to iris constitution, and determined apoE genotype. Neurogenic type in hypertensives was 32.2% compared with 16.5% in controls (P<0.001). No differences in the apoE genotypes frequencies were observed in patients compared with those in controls ($x^2=0.726$, df-=2, P=0.696). However, in a population with ${\varepsilon}3/{\varepsilon}4$ genotype, the frequency of neurogenic constitution was significantly higher in hypertensives than in controls (60% vs. 0%) ($x^2=5.265$, df=l, P=0.022). These results could imply that apoE ${\varepsilon}3/{\varepsilon}4$ genotype and neurogenic iris constitution are risk factors for hypertension.

• 대한지역사회영양학회지
• /
• 제13권5호
• /
• pp.713-722
• /
• 2008

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 $B_2$ (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.

• Advances in Traditional Medicine
• /
• 제4권2호
• /
• pp.104-111
• /
• 2004

Sasang Constitutional Medicine is a major branch of Korean Traditional Oriental Medicine. The differences of disease susceptibility to be shown in Sasang constitution may be due to genetic factors. Therefore, we examined interrelationship among cerebral infarction (CI), apolipoprotein E (apoE) gene polymorphism, and Sasang constitutional classification. ApoE is a key protein modulating the highly atherogenic apoB containing lipoproteins and is a candidate gene for the development of coronary artery disease (CAD). The ${\varepsilon}2\;and/or\;{\varepsilon}4$ alleles were the first to be implicated in premature CAD, which resulted in this polymorphism being extensively studied. We investigated the association between apoE genotype and CI by case-control study in a Korean population. We also classified CI patients and control group into groups according to Sasang Constitutional Medicine. 196 CI patients and 379 controls without CI were examined. ApoE genotype was determined by 8% polyacrylamide gel separation after DNA amplification. A significant difference in the apoE genotype distribution was observed in the CI patients compared with that in controls ($X^{2}$=14.920, df=4, P=0.005). Also, the frequency of Taeumin constitution in patients with CI was significantly higher than that in controls (58.0% vs. 36.9%; P<0.001). However, the Taeumin constitution did not enhance the relative risk for CI in the subjects with apoE ${\varepsilon}2\;and/or\;{\varepsilon}4$ alleles. No differences in the apoE genotypes frequencies were observed in the Taeumin compared with that in the other constitutions. In addition, we investigated whether the DD genotype of angiotensin converting enzyme (ACE) gene, a candidate gene for CI, was associated with CI, Taeumin constitution, and apoE polymorphism. As a result, the frequency of Taeumin constitution was significantly higher in CI patients with both apoE ${\varepsilon}3/{\varepsilon}4$ and ACE ID/DD genotypes than in the remaining Sasang constitutions (14.5% vs. 8.3% and 0%) ($X^{2}$=13.521, df=6, P=0.035). In summary, we concluded that the apoE polymorphism is a major risk factor for CI in Koreans and the ACE ID/DD genotype enhanced the relative risk for CI in the subjects with apoE ${\varepsilon}3/{\varepsilon}4$ genotype and Taeumin constitution.