A simple and efficient method for apolipoprotein E genotype determination

Chapman, Joab; Estupiñan, Juan; Asherou, Alexander; Goldfarb, Lev G.

doi:10.1212/wnl.46.5.1484-a

Cited by 78 publications

(47 citation statements)

References 2 publications

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“…Amplified products were purified using a QIAquick PCR purification kit (Qiagen, Hilden, Germany), labeled using a BigDye Terminator v3.1 Cycle Sequencing Kit (Applied Biosystems, Foster City, Calif., USA) and were directly sequenced on an ABI PRISM 3100 Avant Genetic Analyzer (Applied Biosystems). The apolipoprotein E ( APOE ) genotype and MAPT haplotype were determined using standard methods [24,25,26]. …”

Section: Methodsmentioning

confidence: 99%

Familial Semantic Dementia with P301L Mutation in the Tau Gene

Ishizuka

Nakamura

Ichiba

et al. 2011

Dement Geriatr Cogn Disord

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Background/Aims: Semantic dementia (SD) is a clinical subclassification of frontotemporal lobar degeneration. Patients with ‘pure SD’ present with semantic memory impairment preceding the frontal symptoms, and there have been no reports of familial cases. Methods: We evaluated the clinical features of, and performed neuropsychological examinations on, the proband and two affected family members. Then we performed neuroimaging and genetic analysis of MAPT and other dementia-related genes in the proband. Results: All three cases had semantic memory impairment with loss of word meanings as the primary early symptom. We diagnosed all cases as pure SD and identified a P301L mutation in the MAPT gene of the proband. Conclusion: Although the P301L mutation identified here has been previously described as pathogenic for frontotemporal dementia with parkinsonism-17 (FTDP-17), the proband and his two affected relatives showed different clinical symptoms from those of typical FTDP-17 cases who carry the P301L mutation. Pathologically, pure SD usually shows a TAR DNA-binding protein proteinopathy, but the molecular understanding of SD is not well established. Although our cases were clinically pure SD, the proband has a tau gene mutation, which would lead to tauopathy. These findings suggest that reconsideration of the molecular understanding of SD is warranted.

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Section: Methodsmentioning

confidence: 99%

Familial Semantic Dementia with P301L Mutation in the Tau Gene

Ishizuka

Nakamura

Ichiba

et al. 2011

Dement Geriatr Cogn Disord

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“…We performed APOE genotyping using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), as described previously, 33 but with slight modifications. Genomic DNA was isolated from 15-25 mg of brain tissue using a DNA purification kit (DNeasy Blood and Tissue Kit; Qiagen).…”

Section: Apoe Western Blotmentioning

confidence: 99%

ApoE and cholesterol in schizophrenia and bipolar disorder: comparison of grey and white matter and relation with APOE genotype

Vila‐Rodriguez¹

2011

J Psychiatry Neurosci

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47Background: Apolipoprotein E (apoE) and cholesterol play a critical role in synapse and myelin maintenance and integrity and are thus appealing candidates in the pathogenesis of schizophrenia and bipolar disorder. To explore the role of these 2 molecules, we quantified cholesterol and apoE levels in prefrontal grey and white matter in patients with schizophrenia, bipolar disorder and healthy controls. Furthermore, we investigated the relations between apoE and cholesterol levels and the APOE genotype. Methods: We obtained dorsolateral prefrontal grey and white matter from the Stanley Medical Research Institute Brain Collection (schizophrenia n = 35, bipolar disorder n = 35 and controls n = 35). Cholesterol levels were quantified using high-pressure liquid chromatography, whereas apoE was measured by enzyme-linked immunosorbent assay. Results: We found no significant differences in cholesterol or apoE levels among the groups. ApoE levels were higher in grey matter than in white matter in all groups; conversely, levels of cholesterol were higher in white matter than in grey matter. We observed a significant inverse correlation between apoE and cholesterol levels in both grey and white matter. Furthermore, in grey matter, apoE levels were significantly higher in APOE ε2 carriers compared with APOE ε3 or APOE ε4 carriers, with cholesterol levels following the opposite trend. Limitations: Limitations of our study include our inability to control for poten tial confounding variables and the small numbers of APOE ε2 and ε4 carriers in each group. Conclusion: Although large amounts of cholesterol are present in white matter, apoE expression is limited. The APOE genotype may play a role in the regulation of both cholesterol and apoE levels in grey matter. The impact of APOE polymorphisms on lipid homeostasis in people with psychiatric disorders warrants further investigation.

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“…Genetic variation at the APOE locus has been performed by digesting the PCR product with the Afl III restriction enzyme as described by Chapman et al [16]. The polymerase chain reaction (PCR) program for detection of ACE genotypes was performed according to the method of Ribichini et al [17].…”

Section: Genotyping Assaysmentioning

confidence: 99%

ACE I/D polymorphism in Alzheimer’s disease

et al. 2008

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Angiotensin-converting enzyme (ACE) has been reported to show altered activity in patients with neurological diseases. The recent studies found that a 287 bp insertion/deletion (I/D) polymorphism of the ACE gene may be associated with susceptibility to Alzheimer's disease (AD) but the results have been heterogenous between studies in Europe. In the present study we examined for the first time the association of ACE I/D polymorphism along with APOE genotype in 70 sporadic AD and 126 control subjects in Slovak Caucasians (Central Europe). An increased risk for AD was observed in subjects with at least one APOE*E4 allele (OR=3.99, 95% CI=1.97-8.08). No significant differences for the genotype distribution or the allele frequency were revealed comparing controls and patients for ACE gene. Gene-gene interaction analysis showed increase of the risk to develop AD in subjects carrying both the ACE DD genotype and the APOE*E4 allele (OR=10.32, 95% C.I. 2.67-39.81).

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A simple and efficient method for apolipoprotein E genotype determination

Cited by 78 publications

References 2 publications

Familial Semantic Dementia with P301L Mutation in the Tau Gene

Familial Semantic Dementia with P301L Mutation in the Tau Gene

ApoE and cholesterol in schizophrenia and bipolar disorder: comparison of grey and white matter and relation with APOE genotype

ACE I/D polymorphism in Alzheimer’s disease

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