CLarifying ABCB1's Role in Amyloid Efflux and Alzheimer's Disease Risk
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 510
- 试验地点
- 1
- 主要终点
- Allele and genotype frequencies of ABCB1 single nucleotide polymorphisms (3435C>T, 2677G>T/A, and 1236C>T)
研究概览
简要总结
Alzheimer's disease is biologically defined by the accumulation of amyloid beta and tau protein, identified using cerebrospinal fluid biomarkers. The ABCB1 gene, which encodes P-glycoprotein involved in amyloid beta efflux across the blood-brain barrier, may influence Alzheimer's disease risk. We hypothesize that certain functional ABCB1 polymorphisms impair amyloid beta clearance, thereby promoting the development of biologically defined Alzheimer's disease.
详细描述
A case-control study comparing the distribution of three functional ABCB1 gene polymorphisms (3435C>T, 2677G>T/A, 1236C>T) in patients with biologically defined Alzheimer's disease versus neurological controls. We will also analyze the distribution of haplotypes derived from the combination of these three polymorphisms and investigate potential interactions between these polymorphisms and the APOE genotype, particularly the presence of the ε4 allele.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 50 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •age ≥ 50 years,
- •available cerebrospinal fluid biomarker results,
- •an available and usable DNA sample,
- •and consent for future research use within the biobank.
排除标准
- •the presence of an active non-degenerative neurological disorder (for example, multiple sclerosis, infections, or tumors),
- •and missing data regarding APOE genotyping or cardiovascular risk factors
研究组 & 干预措施
Patients with cerebrospinal fluid amyloid and phosphorylated tau biomarkers (A+T+)
干预措施: ABCB1 genotyping (Genetic)
Patients without cerebrospinal fluid amyloid, phosphorylated tau and total tau biomarkers (A-T-N-)
干预措施: ABCB1 genotyping (Genetic)
结局指标
主要结局
Allele and genotype frequencies of ABCB1 single nucleotide polymorphisms (3435C>T, 2677G>T/A, and 1236C>T)
时间窗: Baseline (at the time of biological sampling and clinical assessment)
Allele and genotype frequencies of the ABCB1 single nucleotide polymorphisms 3435C\>T, 2677G\>T/A, and 1236C\>T, determined by genotyping from genomic DNA, will be compared between: * patients with biologically defined Alzheimer's disease (A+T+Nx), and * neurological control participants with a negative biomarker profile (A-T-N-). Data will be summarized as allele frequencies and genotype distributions in each group.
次要结局
- Haplotype frequencies of ABCB1 polymorphisms (3435C>T, 2677G>T/A, and 1236C>T)(Baseline (at the time of biological sampling and clinical assessment))
- Distribution of ABCB1 polymorphisms stratified by APOE ε4 carrier status(Baseline (at the time of biological sampling and clinical assessment))