Influence of the polymorphism of apolipoprotein E in cerebral vascular disease

Abstract

-The genetic heterogeneity of apolipoprotein E (apo E) has been associated with lipid profile and atherothrombotic stroke, however this association remains inconclusive. Objective: To evaluate the relationship between the isoforms of apo E and atherothrombotic stroke, by ascertaining the frequency of its alleles and genotypes associated with the lipid profile in patients with stroke. Method: A total of 207 individuals were divided into two groups, consisting of 107 patients with stroke and 100 individuals without clinical symptoms of the disease. Blood samples were taken from patients and controls for molecular investigation of the apo E (ε2, ε3 and ε4 alleles) for the analysis of the lipid profile. Results: The ε3 allele was the most common and its prevalence was significantly higher in patients (0.93) compared to the controls (0.86; p=0.024). The ε2 allele was rarely seen specifically in patients (0.02 versus 0.05 in controls, p=0.191). The ε4 allele was not associated with stroke showing a reduced frequency in patients (0.05) when compared to controls (0.09; p=0.011). Although higher average levels of lipid profile were found in patients when compared to controls, with statistical significance for the values of total cholesterol (TC) (203.6mg/dL±57.98 and 181.9mg/dL±68.47 respectively; p=0.003) and lowdensity lipoprotein cholesterol (LDLc) (131.4mg/dL±52.60 and 116mg/dL±56.38, respectively; p=0.014), these were independent of the presence of the ε4 allele. In control group the higher TC and LDLc values occurred in the absence of the ε4 allele, confirming the conflicting effect of the alleles of apo E on the plasmatic lipids and atherothrombotic stroke. Conclusion: The isoforms of apo E cannot be regarded as an isolated risk factor for stroke and do not show association with lipid profile in this study.KEY WORDS: stroke, apolipoprotein E, atheromathosis, lipid profile.Influência do polimorfismo da apolipoproteína E na doença cerebrovascular Influência do polimorfismo da apolipoproteína E na doença cerebrovascular Influência do polimorfismo da apolipoproteína E na doença cerebrovascular Influência do polimorfismo da apolipoproteína E na doença cerebrovascular Influência do polimorfismo da apolipoproteína E na doença cerebrovascular RESUMO -A heterogeneidade genética da apolipoproteína E (apo E) tem sido associada com o perfil lipídico e acidente vascular cerebral aterotrombótico (AVC at); no entanto, esta associação permanece inconclusiva. Objetivo: Avaliar a relação entre as isoformas da apo E e o AVC at pela determinação da frequência de seus alelos e genótipos, associados ao perfil lipídico, em pacientes com a doença. Método: Foram estudados 207 indivíduos distribuídos em 2 grupos, consistindo de 107 pacientes com AVC e 100 indivíduos sem sintomas clínicos da doença. Amostras de sangue periférico foram obtidas de pacientes e controles para investigação molecular da apo E (alelos ε2, ε3 e ε4) e para análise do perfil lipídico. . . . . Resultados: O alelo ε3 foi o mais comum e sua prevalência foi sign...

Methylenetetrahydrofolate reductase gene polymorphism and its association with coronary artery disease

“…14,15 On the other hand, the similar levels of TC, LDLc, VLDLc and TG in the two groups found in the present study are discordant with other published studies. 16,17 The other risk factors and clinical signs, including high blood pressure, lack of exercise, ventricular involvement and alcoholism were also similar between the groups. It is possible that the selection of controls (with negative angiography for coronary artery obstruction) in the cardiology outpatient clinic may have contributed towards the very high prevalences of hypertension (60%) and angina (86%).…”

<i>APOE</i> Genotype and Serum Cholesterol in Predicting Risk for Early Death from Ischemic Stroke in Men and Women

“…The main physiological role of apoE is participation in cholesterol metabolism [9,10,11,12,13,14,15]. …”

Genetics of Ischemic Stroke: Emphasis on Candidate-Gene Association Studies

“…Approximately half of all casecontrol studies [26,27,29,33,38,41,45,47,49,51,53,54,57,58,60,64,67,69,71,[73][74][75][76][78][79][80]82,84,85,[89][90][91][93][94][95][96]99,100] showed an increased frequency of the ε4 allele in stroke patients, making it a highly probable risk factor for IS; in four, significant association with large-vessel IS was observed. Three groups described the 2 allele as a risk factor for IS [76,85,94].…”