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مقدمهآپولیپوپروتئینE (ApoE) در استعداد ابتلا به انواع مختلف بیماری ها مشارکت دارد. هدف این مطالعه آنالیز ژنوتیپی ApoE در قوم لر برای اولین بار بود.مواد و روش هادر این مطالعه 100 فرد سالم غیرخویشاوند لر از نظر پلی مورفیسم های ApoE به روش واکنش زنجیره ای پلیمراز بر اساس پلی مورفیسم طول قطعه محدود شونده (PCR-RFLP) تایپ گردیدند. در نهایت، فراوانی ژنوتیپی و آللی پلی مورفیسم های ApoE در جمعیت لر با جمعیت ایرانی مقایسه شد.یافته هاشش ژنوتیپ ApoE و تمام پلی مورفیسم های ApoE در جمعیت لر مشاهده گردیدند. ژنوتیپ با فراوانی 48٪ شایع ترین ژنوتیپ در جمعیت لر بود. شایع ترین آلل در جمعیت لر نیز آلل بود.بحث و نتیجه گیرینتایج نشان می دهد که فراوانی پلی مورفیسم های ApoE در جمعیت لر دارای ویژگی های کلی گزارش شده در جمعیت ایرانی می باشد، ولی با کاهش یا افزایش برخی فراوانی ها، هنوز هم منحصر به فرد است.
کلید واژگان: آپولیپوپروتئین E, پلی مورفیسم, جمعیت لر, ایرانYafteh, Volume:15 Issue: 5, 2014, PP 5 -12BackgroundApolipoprotein E (ApoE) contributes to susceptibility to many different kinds of diseases. The aim of this study was genotypic analysis of ApoE in the Lur population for the first time.Materials And MethodsIn this study, 100 unrelated healthy Lur individuals were ApoE polymorphisms typed by polymerase chain reaction based restriction fragment length polymorphism (PCR-RFLP). Finally, the allele and genotype frequency of ApoE polymorphisms in the Lur population was compared with the Iranian population.ResultsSix ApoE genotypes and all of the ApoE polymorphisms were observed in the Lur population. genotype with the frequency of 48% was the most frequent genotype in the Lur population. Also, the most common allele in the Lur population was.ConclusionThe results indicate that the frequency of ApoE polymorphisms has total similar features reported in the Iranian population, but it is still unique by increasing or decreasing some frequencies in the Lur population.Keywords: Apolipoprotein E Polymorphism_Lur population_Iran -
BackgroundThe apolipoprotein E (APOE) polymorphism is known to affect various neurologic disorders with different effects on the immune system and CNS repair. However, previous studies on possible modulation of the clinical course of multiple sclerosis (MS) by APOE polymorphism have been inconsistent.ObjectiveTo clarify the issue for MS patients'' management and future research.MethodsThe present cross-sectional study investigated 81 patients with clinically proven MS and related their clinical and demographic findings to the allelic polymorphism of the APOE gene. The genotype distribution of patients with MS was compared with a comparison group of 93 asymptomatic elderly volunteers.ResultsSignificant differences were found in the distribution of e4 allele between patients with MS and the comparison group (9.3% vs. 0.5%; p<0.001). An analysis of disease progression in 81 patients with MS indicated that APOE e4 carriers are more likely to be affected with severe disease.ConclusionThe results obtained suggested that APOE genotype affected susceptibility to MS and indicated an association of the APOE e4 allele with a more severe course of the disease.
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BackgroundThis study aimed at investigating the association between alleles and genotypes of APOE and developing Age-related macular degeneration (AMD).Materials And MethodsAfter ophthalmological examination, 120 patients with confirmed AMD and 120 healthy controls were enrolled. The polymorphic segment of APOE gene was PCR-amplified and sequenced to determine the frequency distribution of polymorphic alleles and genotypes of this gene in sample population.ResultsThe frequency distribution of APOE alleles and genotypes differed significantly between the patients and control groups (P<0.05). The frequency of APOEε2 was higher in patients than that of the controls (P = 0.00) and this variant allele showed a significant association with AMD even after removal of the effects of age, sex and smoking in logistic regression analysis (P = 0.00, OR= 3.439; CI 95% 1.664-7.108). On the other hand, the frequency distribution of APOEε4 was not statistically different between patients and healthy controls.ConclusionThe results showed a moderate positive association between APOE ε2 and AMD, but no specific role was found for APOE ε4 in protection against AMD. However, more studies are required to clarify the possible role of APOE in the pathogenesis of AMD.Keywords: Age_related macular degeneration_Association study_Apolipoprotein E Vision
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BackgroundApo-lipoprotein E (APOE) and Carnitine palmitoyltransferase1-A (CPT1-A) genes are well known to be involved in the pathophysiology of psychiatric disorders such as schizophrenia but regarding their CPG island methylation status data is sparse..ObjectivesThe aims of the current study were to highlight the effect of the promoter “hypermethylation” in the development of SCZ..Patients andMethodsGenomic DNA was extracted from peripheral blood of 80 patients with schizophrenia and 71 healthy controls. The Methylation pattern was studied using Methylation-Specific PCR. RNA expression analysis was performed on extracted RNA from blood samples of patients suffering from schizophrenia (n = 17) and healthy controls (n = 17)..ResultsFrequency of the APOE and CPT1-A methylation show insignificant relationship between cases and controls. Estimates of relative gene expression revealed no significant statistical association of the APOE and CPT1-A genes between schizophrenic patients and healthy controls..ConclusionsThis is the first evidence regarding APOE and CPT1-A gene methylation and their expression profile related to risk of schizophrenia which indicate no significant association between the APOE and CPT1-A gene methylation and development of schizophrenia.Keywords: Apolipoproteins E carnitine palmitoyltransferase 1A_human_Schizophrenia
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BackgroundGuillain-Barre syndrome (GBS) is an acute immune-mediated disease that affects both adults and children. Many infectious and non-infectious conditions may trigger this disease. Apolipoprotein E (APOE) is a glycosylated protein that has a variety of lipid and non-lipid related functions. The present study aimed to evaluate the serum levels of APOE in children with GBS compared to healthy control subjects to evaluate the diagnostic and pathologic effects of APOE in GBS.MethodsIn a cross-sectional design, 124 participants were divided into the GBS group (n=61) and the control group (n=63). Blood sampling and measurement of APOE were done according to the manual of the Human APOE ELISA kit. Demographic variables and further data about GBS patients were collected from patients' medical records. Weight and height were measured using SECA scales. The analyses were performed using SPSS Statistics 21.0 software and appropriate analytical tests. P-values of <0.05 were considered statistically significant.ResultsMean ±SD of APOE serum levels was 8.43±3.59 micrograms/ml in the GBS group and 35.28±11.18 micrograms/ml in the comparison group. The difference between the two groups was strongly significant (P<0.001). The mean level of protein in Cerebrospinal Fluid (CSF) in GBS patients was 184.36±19.09 mg/dl. There was not any significant difference in the demographic findings between the two groups.ConclusionOur study demonstrated that the serum levels of APOE in children with GBS are lower compared to healthy subjects.Keywords: Guillain-Barre Syndrome, Apolipoprotein E, Pediatric, auto-immunity
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BackgroundAlzheimer''s disease as a neurodegenerative disorder is the commonest type of dementia. A growing number of genes have been reported as the risk factors, which increase the susceptibility to Alzheimer''s disease. Apolipoprotein E (APOE), which its ε4 allele has been reported as a risk factor in late onset Alzheimer''s disease (AD), is the main cholesterol carrier in the brain. The main goal of this study was to assess the role of APOE genotypes and alleles in AD in Iranian population.MethodsThis study was performed in Tehran, Iran from 2007 to 2008. Totally, 154 AD cases and 162 control subjects from Iranian population were genotyped for APOE using PCR method. Genotype and alleles frequencies for APOE were calculated and compared between AD case and control subjects by χ2 or Fisher''s exact test. Type one error assumed less than 0.05.ResultsThe frequency of ε2ε3 genotype was significantly higher in control subjects than AD patients was (13.5% versus 5.2%, P< 0.05) and ε3ε4 genotype frequency was significantly higher in AD cases compared with control subjects. APOE -ε2 allele frequency in cases was lower than that of control subjects but this difference was not significant (4.2% versus 7.7%).ConclusionIt seems that individuals carrying ε4 allele, develop AD 6.5 times more than non-carriers do (OR= 6.566, 95% CI= 2.89-14.92). It has been reported that ε4 allele acts in dose- age-dependent manner but we have shown that the risk of developing AD in male APOE -ε4 allele carriers is higher than that of female ε4 carriers.
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BackgroundApolipoprotein E (APOE), which its ε4 allele has been reported as a risk factor in late onset Alzheimer’s disease (AD), is the main cholesterol carrier in the brain. ATP-binding cassette transporter A1 (ABCA1) gene on chromosome 9, which has been known by genome-wide AD linkage study, has an important role in cellular cholesterol efflux. This study determines the association between sporadic AD and the human ABCA1 and APOE gene polymorphisms in Iranian population.Methods154 AD cases and 162 control subjects from Iranian population were genotyped for APOE genotypes and ABCA1 polymorphism (R219K).ResultsThe frequency of ε2ε3 genotype was higher in control subjects comparing AD patients but was not significant (13% versus 5.8%) and ε3ε4 genotype frequency was significantly higher in AD cases comparing with control subjects. APOE-ε2 allele frequency in cases was lower than control subjects but this difference was not significant (4.5% versus 8%). Individuals carrying ε4 allele, developed AD 6.5 times more than non-carriers (OR=6.52, 95%CI=2.63-16.17). There was no significant association between ABCA1 polymorphism and AD.ConclusionUnlike other studies, R219K polymorphism was not dependent on gender and APOE-ε4 allele and there was no association between APOE and ABCA1 in AD patients compared to controls.
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BackgroundApolipoprotein E (ApoE) gene encodes an important protein in reforming injuries of central nervous system (CNS). It is assumed that various ApoE alleles may be functionally different. The purpose of this study was to investigate the distribution of ApoE genotypes in multiple sclerosis (MS) patients in a small cohort of Iranians.MethodsIn this case-control study, blood samples of patients and healthy volunteers were collected (n = 40) from Neurology Clinic of Alzahra Medical Complex. The ApoE genotypes were determined using DNA extracted from the samples by polymerase chain reaction (PCR) techniques followed by digestion with HhaI restriction enzyme. The results were adjusted for age of MS onset, sex, expanded disability status scale (EDSS), and type of MS (primary or secondary progressive). Results were statistically analyzed using chi-square test.ResultsThe ApoE3/E3 genotype was detected in the majority of MS patients and the control group. Frequency distribution of E4 allele did not differ significantly between the two groups. There was no difference between ApoE allele and age of disease onset, sex, EDSS or type of MS.ConclusionsWe found no significant differences in genotype frequency between MS patients and the control group. Despite the fact that small sample size was a limitation for our study, it seems that ApoE polymorphism may not be useful as a marker for screening MS patients.
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سابقه و هدفآترواسکلروز بیماری شایع و مهم قلبی - عروقی است. عوامل گوناگونی در رخداد این بیماری موثرند. در این اختلال دگرگونی هایی در لیپیدها، لیپوپروتیین ها و آنزیم ها رخ می دهد. از جمله این دگرگونی ها تغییرات آپوپوروتیین هایی مثل: ApoJ, ApoB, ApoA و ApoE است. در این پژوهش بررسی میزان ApoE و ApoB و وابستگی آنها با آترواسکلروز انجام گرفت تا بتواند در تشخیص و پیش بینی دقیق تر مشکل های وابسته به، آترواسکلروز کمک کند.مواد و روش هااین پژوهش مورد - شاهدی در بخش قلب و عروق بیمارستان طالقانی وابسته به دانشگاه علوم پزشکی شهید بهشتی بر روی 25 بیمار آترواسکلروز و 25 نفر شاهد آنها در سنین 35 تا 70 سالگی که از دیدگاه سن، جنس و پیشینه مصرف سیگار همسان سازی شده بودند، انجام شد. از هر یک از افراد6 میلی لیتر خون سیاهرگی گرفته شد و پس از جدا کردن سرم آنها، میزان سرمی ApoEوApoB در آزمایشگاه مرکز تحقیقات غدد درون ریز و متابولیسم، بوسیله روش الایزا انجام گرفت.یافته هایافته های پژوهش بر روی 25 نمونه مورد مبتلا به آترواسکلروز و25 نمونه شاهد، در سنین 35تا 70 سالگی، مراجعه کننده به بخش قلب و عروق بیمارستان طالقانی نشان داد که میانگین میزان ApoB در سرم بیماران 1.45 میلیگرم در لیتر و در سرم نمونه های شاهد 0.76 میلیگرم در لیتر بود. میانگین میزان ApoE در سرم بیماران 32.5 میلیگرم در لیتر و در سرم نمونه های شاهد 35.4 میلیگرم در لیتر بود. تفاوت های مختصر دیده شده میان وزن، سن، فشار خون در میان گروه های مورد و شاهد از دیدگاه آماری معنی دار نیست. تفاوت در دو گروه مورد و شاهد برای 0.68 ApoB (P<0.01) و برای ApoE، 2.9 (P=0.46) بود. این تفاوت ها آماری برای ApoB معنی دار بود اما برایApoE معنی دار نبود.نتیجه گیریبا توجه به یافته های پژوهش درباره میزان ApoB و ApoE می توان گفت که وجود اختلاف مقدار این دو در بیماران و شاهدان آنها، از دیدگاه آماری برای ApoB معنی دار است و برای ApoE معنی دار نیست. درباره ApoB بررسی های پیشین نیز وابستگی آن را با آترواسکلروز تایید کرده اند. اما درباره ApoE تنها برخی از پژوهش ها وابستگی آن را با آترواسکلروز نشان داده اند که این مساله درباره آلل های گوناگون آن متفاوت است. بنابراین می توان گفت که افزایش میزان ApoE یک عامل غیر اختصاصی تاثیر گذار در رخداد فرایند آترواسکلروز است. در این رابطه پژوهشهای بیشتری لازم است.
کلید واژگان: آترواسکلروز, ApoB و ApoE -
BackgroundThe Apolipoprotein E (ApoE) polymorphism plays an important role in the pathophysiology of end-stage renal disease (ESRD). Additionally, ApoE may contribute to the progression of oxidative stress. Thus, this study aimed to determine the ApoE gene polymorphism and evaluate the malondialdehyde (MDA) level in ESRD patients and healthy individuals.MethodsThe present cross-sectional study was conducted at 2010 at Kermanshah University of Medical Sciences (Kermanshah, Iran). The study population comprised ESRD patients (n=136) and healthy individuals (n=137). The MDA level was assessed using high-performance liquid chromatography (HPLC), and the frequencies of ApoE gene alleles were analyzed using restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR). The data were analyzed using Statistical Package for Social Sciences (SPSS), version 13. The significant differences of ApoE genotypes in case and control groups were assessed using Pearson’s Chi square tests, and two-tailed Student’s tests. A logistic regression model was used to calculate the odd ratio. P<0.05 was considered statistically significant.ResultsAccording to the results, ESRD patients had a higher frequency of the E2/E3 genotype than the healthy group (P<0.001). The results indicated that E3/E4 genotype frequency in the patients’ group was higher than that of the control group (P=0.026). Furthermore, the E3/E2 (OR=5.7, 95% CI=2.68-12.14) (P<0.001) and E3/E4 (OR=1.57, 95% CI=1.05-2.34) (P=0.029) genotypes were found to increase the risk of ESRD. Moreover, the MDA level in ESRD patients was higher than the healthy individuals (P<0.001). The patients with E3/E2 (P<0.001) and E3/E4 (P<0.001) genotypes had a higher level of MDA than the control group.ConclusionAccording to the findings, patients with ESRD had higher genotypes of E3/E2 and E3/E4, which suggests a higher risk of developing ESRD.Keywords: Kidney Failure, Chronic, Apolipoproteins E, Malondialdehyde, Polymorphism
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