In this study, we investigated the associations between single-nucleotide polymorphisms in GAB2 (rs2373115), GSK3B (rs6438552) and SORL1 (rs641120) and Alzheimer's disease (AD), both alone and in combination with the APOE*4 allele.

Vascular cognitive impairment (VCI), including vascular dementia, is the second most common dementia after Alzheimer's disease. Despite its prevalence, the genetic etiology of sporadic VCI is largely unknown. We conducted a systematic review of all published genetic association studies of forms of sporadic VCI prior to 6 July 2012. An initial pool of 229 gene association studies yielded 104 pap...

BACKGROUND 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 con...

Apolipoprotein E (Apoe) genetic polymorphisms have been implicated in the long term outcome of subarachnoid haemorrhage (SAH), but little is known about the effect of Apoe on the early brain injury (EBI) after SAH. This study investigated the potential role of APOE in EBI post-SAH. Multiple techniques were used to determine the early BBB disruption in EBI post-SAH in a murine model using wild-t...

In the 17 years since the original report linking the 4 allele of the apolipoprotein E (APOE) gene [1] with late-onset Alzheimer’s disease (LOAD), considerable effort has been expended to elucidate the role that APOE plays in LOAD risk and age of disease onset. LOAD is a genetically complex and heterogeneous disorder. The disease has a strong heritability that is estimated to reach nearly 80% [...

This study confirms the association of risk factors for coronary artery disease (CAD) and the apoE polymorphisms, specifically related to the APOE*4 allele, with coronary disease in postmenopausal women. Significantly altered values of the lipid profile were found in patients when compared with controls, independent of the presence of the APOE*4 allele. However, the controls showed higher high-...

BACKGROUND The role of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms as risk factors for the occurrence of Alzheimer's disease (AD) is still controversial. OBJECTIVE To verify the association between MTHFR and apolipoprotein E (APOE) polymorphisms and Alzheimer's disease. METHOD This work was conducted as a case-control study. Cases included thirty patients with probable AD...

The goal of this study was to examine the association between known polymorphisms in the apolipoprotein E gene (APOE) and diabetic nephropathy (DN) in type 1 diabetes. We used both a case-control comparison and a family-based study design known as the transmission/disequilibrium test (TDT). For the case-control comparison, we collected DNA from 223 subjects with clinically diagnosed DN and 196 ...

BACKGROUND Although the association between apolipoprotein E (APOE) genetic polymorphisms and multiple sclerosis (MS), has been debated, the presence of the epsilon4 allele has been associated with an aggressive disease progression. OBJECTIVES Present study aimed to investigate whether or not the APOE allele has an impact on disease progression in patients with MS. The study investigated the ...

BACKGROUND It has been proposed that, independent of the epsilon4 allele, APOE promoter polymorphisms (-491 A/T and -219 G/T) may be risks factor for Alzheimer's disease by modulating APOE expression. OBJECTIVE To measure the level of APOE expression in Alzheimer's disease. METHODS Brains were obtained at necropsy from 114 patients with early and late onset sporadic Alzheimer's disease in G...