Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
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.
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.
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with cerebrospinal fluid amyloid and phosphorylated tau biomarkers (A+T+) |
| ||
| Patients without cerebrospinal fluid amyloid, phosphorylated tau and total tau biomarkers (A-T-N-) |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| ABCB1 genotyping | Genetic | Genotyping of three single nucleotide polymorphisms (3435C>T, 2677G>T/A, and 1236C>T) associated with variation in P-glycoprotein activity, using DNA samples stored in a biobank. |
| Measure | Description | Time Frame |
|---|---|---|
| Allele and genotype frequencies of ABCB1 single nucleotide polymorphisms (3435C>T, 2677G>T/A, and 1236C>T) | 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:
| Baseline (at the time of biological sampling and clinical assessment) |
| Measure | Description | Time Frame |
|---|---|---|
| Haplotype frequencies of ABCB1 polymorphisms (3435C>T, 2677G>T/A, and 1236C>T) | Haplotype frequencies derived from the combination of the ABCB1 single nucleotide polymorphisms 3435C>T, 2677G>T/A, and 1236C>T, inferred from genotyping data, will be compared between:
|
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Not provided
Patients followed in a memory clinic who underwent a comprehensive clinical and paraclinical assessment, including cerebrospinal fluid biomarkers.
Not provided
Not provided
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hôpital Lariboisière - Fernand Widal (AP - HP) | Paris | France |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| ID | Term |
|---|---|
| D000544 | Alzheimer Disease |
| ID | Term |
|---|---|
| D003704 | Dementia |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
Not provided
Not provided
Not provided
Not provided
Not provided
DNA samples stored in a biobank from patients followed in a memory clinic who underwent a lumbar puncture.
| Baseline (at the time of biological sampling and clinical assessment) |
| Distribution of ABCB1 polymorphisms stratified by APOE ε4 carrier status | The distribution of ABCB1 single nucleotide polymorphisms (3435C>T, 2677G>T/A, and 1236C>T) will be assessed according to APOE ε4 carrier status (ε4 carriers vs non-carriers) in:
| Baseline (at the time of biological sampling and clinical assessment) |
| D024801 |
| Tauopathies |
| D019636 | Neurodegenerative Diseases |
| D019965 | Neurocognitive Disorders |
| D001523 | Mental Disorders |