ABCA1 rs2230806 polymorphism association with dementia risk in hyperlipidemia

Exploratory Score: 0.900 Price: $0.50 dementia, Alzheimer's disease human patients Status: proposed

What This Experiment Tests

Exploratory experiment designed to discover new patterns targeting ABCA1 in human patients. Primary outcome: association between genetic polymorphisms and dementia risk

Description

A case-control genetic association study investigating polymorphisms associated with dementia risk in patients with hyperlipidemia. The study genotyped 203 patients across three groups: 109 with both dementia and hyperlipidemia, 94 with hyperlipidemia only, and 101 controls for allele frequency analysis. Multiple polymorphisms were tested, with focus on those previously identified in literature as potentially useful for dementia risk assessment. The study included cognitive assessments using neuropsychological tests including the Montreal Cognitive Assessment (MoCA) scale. The primary finding was that ABCA1 rs2230806 polymorphism showed significant association with dementia, particularly Alzheimer's disease, with the GG genotype and G allele being more frequent in dementia patients.

TARGET GENE
MODEL SYSTEM
human patients
ESTIMATED COST
$0
TIMELINE
0 months
PATHWAY
lipid metabolism and transport
SOURCE
extracted_from_pmid_41226793
PRIMARY OUTCOME
association between genetic polymorphisms and dementia risk

Scoring Dimensions

Info Gain 0.00 (25%) Feasibility 0.00 (20%) Hyp Coverage 0.00 (20%) Cost Effect. 0.00 (15%) Novelty 0.00 (10%) Ethical Safety 0.00 (10%) 0.900 composite

📖 Wiki Pages

ABCA1 - ATP-Binding Cassette Transporter A1geneABCA1 GenegeneABCA1→Cholesterol Efflux→APOE Lipidation→AlzheimermechanismABCA1 Proteinproteinabca1-proteinproteinAlzheimer's DiseasediseaseAlzheimer's DiseasediseaseChoroid-Plexus-in-Alzheimers-Diseasecell_typeMicroglia-State Editing via TREM2-LXR Pulse PrograideaLipid Metabolism Dysregulation in NeurodegeneratiomechanismLRP1-ApoE Signaling CascadepathwayLiver X Receptor (LXR) Signaling in NeurodegeneratmechanismTREM2-APOE Axis in NeurodegenerationmechanismTREM2 Lipid Sensing in MicrogliamechanismApolipoprotein and Lipid Transport Therapy Landscatherapeutic

Protocol

Case-control study design with genotyping of multiple polymorphisms in three patient groups (dementia+hyperlipidemia, hyperlipidemia only, controls). Cognitive assessment using neuropsychological tests including MoCA scale. Statistical analysis comparing allele and genotype frequencies between groups.

Expected Outcomes

Identification of polymorphisms that could serve as biomarkers for early dementia risk assessment in hyperlipidemic patients

Success Criteria

Statistically significant differences in allele or genotype frequencies between dementia and control groups

Related Hypotheses (2)

HDL/apoE Particle Remodeling as a Therapeutic Switch for CAA Prevention0.766
APOE4 hypolipidation and ABCA1 mistrafficking impair cholesterol efflux and secondarily reduce ER st0.680

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