Alpha-1-antichymotrypsin bi-allele polymorphism, apolipoprotein-E tri-allele polymorphism and genetic risk of Alzheimer's syndrome

1995 ◽  
Vol 10 (2-3) ◽  
pp. 207-212 ◽  
Author(s):  
J. Thome ◽  
A. Baumer ◽  
J. Kornhuber ◽  
M. Rösler ◽  
P. Riederer
Keyword(s):  
Apolipoprotein E ◽  
Genetic Risk ◽  
Allele Polymorphism

scholarly journals Interactions between Apolipoprotein E Metabolism and Retinal Inflammation in Age-Related Macular Degeneration

Life ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 635
Author(s):  
Monica L. Hu ◽  
Joel Quinn ◽  
Kanmin Xue
Keyword(s):  
Risk Factor ◽  
Apolipoprotein E ◽  
Macular Degeneration ◽  
Amyloid Beta ◽  
Complement System ◽  
Genetic Risk ◽  
Age Related Macular Degeneration ◽  
Age Related ◽  
Retinal Inflammation ◽  
The Complement System

Age-related macular degeneration (AMD) is a multifactorial retinal disorder that is a major global cause of severe visual impairment. The development of an effective therapy to treat geographic atrophy, the predominant form of AMD, remains elusive due to the incomplete understanding of its pathogenesis. Central to AMD diagnosis and pathology are the hallmark lipid and proteinaceous deposits, drusen and reticular pseudodrusen, that accumulate in the subretinal pigment epithelium and subretinal spaces, respectively. Age-related changes and environmental stressors, such as smoking and a high-fat diet, are believed to interact with the many genetic risk variants that have been identified in several major biochemical pathways, including lipoprotein metabolism and the complement system. The APOE gene, encoding apolipoprotein E (APOE), is a major genetic risk factor for AMD, with the APOE2 allele conferring increased risk and APOE4 conferring reduced risk, in comparison to the wildtype APOE3. Paradoxically, APOE4 is the main genetic risk factor in Alzheimer's disease, a disease with features of neuroinflammation and amyloid-beta deposition in common with AMD. The potential interactions of APOE with the complement system and amyloid-beta are discussed here to shed light on their roles in AMD pathogenesis, including in drusen biogenesis, immune cell activation and recruitment, and retinal inflammation.

scholarly journals Apolipoprotein E is a genetic risk factor for fetal iodine deficiency disorder in China

2000 ◽  
Vol 5 (4) ◽  
pp. 363-368 ◽  
Author(s):  
H Y Wang ◽  
F C Zhang ◽  
J J Gao ◽  
J B Fan ◽  
P Liu ◽  
...  
Keyword(s):  
Risk Factor ◽  
Apolipoprotein E ◽  
Iodine Deficiency ◽  
Genetic Risk ◽  
Genetic Risk Factor ◽  
Iodine Deficiency Disorder

Apolipoprotein E 4 Allele as a Genetic Risk Factor for Left Ventricular Failure in Homozygous β-Thalassemia

Blood ◽  
1998 ◽  
Vol 92 (9) ◽  
pp. 3455-3459 ◽  
Author(s):  
Effrosini Economou-Petersen ◽  
Athanassios Aessopos ◽  
Athina Kladi ◽  
Panagiota Flevari ◽  
Fotis Karabatsos ◽  
...  
Keyword(s):  
Risk Factor ◽  
Apolipoprotein E ◽  
Genetic Risk ◽  
Systolic Function ◽  
Control Sample ◽  
Organ Damage ◽  
Left Ventricular ◽  
Genetic Risk Factor ◽  
Left Ventricular Failure ◽  
Ventricular Failure

Abstract In homozygous β-thalassemia, the organ damage is mainly attributed to excessive iron deposition through the formation of oxygen free radicals. Despite appropriate transfusion and chelation therapy and low ferritin levels, patients still develop organ failure, heart failure being the main cause of death. This study was designed to determine whether the decreased antioxidant activity of the apolipoprotein E (APOE) 4 allele could represent a genetic risk factor for the development of left ventricular failure (LVF) in β-thalassemia homozygotes. A total of 251 Greek β-thalassemia homozygotes were studied. Patients were divided in three groups: group A (n = 151) with no cardiac impairment, group C (n = 47) with LVF, and 53 patients with LV dilatation and normal LV systolic function constituted the group B. DNA was obtained from all patients, and the polymerase chain reaction was used to analyze the polymorphism at the APOE locus. The APOE allele frequencies were compared with those of a Greek control sample of 216 healthy blood donors. Patients with no cardiac impairment had an APOE 4 allele frequency (7.9%) not different from population controls (6.5%, P > .05), while patients with LVF had a significantly higher frequency of APOE 4 (12.8%) than the controls (P < .05, odds ratio = 2.11, 95% confidence interval 1.03 to 4.32). The APOE 4 allele may represent an important genetic risk factor for the development of organ damage in homozygous β-thalassemia. © 1998 by The American Society of Hematology.

Apolipoprotein E and α-1-antichymotrypsin allele polymorphism in sporadic and familial Alzheimer's disease

1999 ◽  
Vol 270 (3) ◽  
pp. 129-132 ◽  
Author(s):  
Federico Licastro ◽  
Steve Pedrini ◽  
Marzia Govoni ◽  
Annalisa Pession ◽  
Cinzia Ferri ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Apolipoprotein E ◽  
Familial Alzheimer’S Disease ◽  
Allele Polymorphism ◽  
Familial Alzheimer's Disease

scholarly journals Aging, cognitive decline, apolipoprotein E and docosahexaenoic acid metabolism

OCL ◽  
2018 ◽  
Vol 25 (4) ◽  
pp. D405 ◽  
Author(s):  
Mélanie Plourde
Keyword(s):  
Arachidonic Acid ◽  
Docosahexaenoic Acid ◽  
Apolipoprotein E ◽  
Genetic Risk ◽  
Cognitive Status ◽  
Behavioral Deficits ◽  
Industrial Countries ◽  
Old Men ◽  
The Relationship ◽  
Kinetics Of

In Canada, ∼17 millions of adults between 30–64 years old could benefit from a prevention strategy to lower the risk of Alzheimer’s disease (AD). My group is working on a population that is particularly at risk of AD, the carriers of an epsilon 4 allele of apolipoprotein E (E4), a genetic risk. Around 20% of the population in industrial countries have this genetic risk but not all carriers will develop AD, suggesting that environmental factors modulate the clinical manifestation and risk of AD in the carriers. My group has discovered that the metabolism of docosahexaenoic acid (DHA) is disrupted during aging and in E4 carriers, a finding replicated in homozygous mice knocked-in for human E4 allele (hAPOE4). We recently showed that a diet containing DHA prevented behavioral deficits in hAPOE4 mice. Another group reported in E4 carriers that the ratio of arachidonic acid (ARA): DHA is disrupted in the plasma and constitute a preclinical marker of mild cognitive impairment/AD in E4 carriers. Using our kinetics approaches with uniformly labelled carbon 13 fatty acids, we showed that the kinetics of 13C-DHA is modified by age and E4 carriage. The kinetics of 13C-arachidonic acid was however not modified by age conversely to that of 13C-eicosapentaenoic acid (EPA). We also reported that the synthesis of 13C-DHA from 13C-EPA started 2 h after the tracer intake in older adults conversely to 7 d in young men. Whether old men needs in DHA is higher or whether their ability to use it is lower remains to be established. These differences in the DHA and EPA metabolism seems, however related to physiological modifications occurring during aging and in E4 carriers and obscure the relationship between plasma DHA and EPA levels, dietary fatty fish intake and cognitive status.

scholarly journals Alzheimer’s disease susceptibility gene apolipoprotein e (APOE) and blood biomarkers in UK Biobank (N=395,769)

2020 ◽  
Author(s):  
Amy C. Ferguson ◽  
Rachana Tank ◽  
Laura M. Lyall ◽  
Joey Ward ◽  
Carlos Celis-Morales ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Risk Factor ◽  
Apolipoprotein E ◽  
Genetic Risk ◽  
Susceptibility Gene ◽  
Density Lipoprotein ◽  
European Ancestry ◽  
Uk Biobank ◽  
Blood Biomarkers

AbstractBackground and objectiveAlzheimer’s disease (AD) is a neurodegenerative condition where the underlying aetiology is still unclear. Investigating the potential influence of apolipoprotein e (APOE), a major genetic risk factor, on common blood biomarkers could provide a greater understanding of the mechanisms of AD and dementia risk. Our objective was to conduct the largest (to date) single-protocol investigation of blood biomarkers in the context of APOE genotype, in UK Biobank.MethodsAfter quality control and exclusions, data on 395,769 participants of White European ancestry were available for analysis. Linear regressions were used to test potential associations between APOE genotypes and biomarkers.ResultsSeveral biomarkers significantly associated with APOE e4 ‘risk’ and e2 ‘protective’ genotypes (vs. neutral e3/e3). Most associations supported previous data: for example, e4 genotype was associated with elevated low-density lipoprotein cholesterol (LDL) (standardized beta [b] = 0.150 standard deviations [SDs] per allele, p<0.001) and e2 with lower LDL (b = −0.456 SDs, p<0.001). There were however instances of associations found in unexpected directions: e.g. e4 and increased insulin-like growth factor (IGF-1) (standardized beta = 0.017, p<0.001) where lower levels have been previously suggested as an AD risk factor.ConclusionsThese findings highlight biomarker differences in non-demented people at genetic risk for dementia. The evidence here in supports previous hypotheses of involvement from cardiometabolic and neuroinflammatory pathways.

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