CLarifying ABCB1's Role in Amyloid Efflux and Alzheimer's Disease Risk

Official Summary

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.

Study Design

• Study Type: OBSERVATIONAL
• Enrollment: 510 participants

Interventions

• GENETIC: ABCB1 genotyping — 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.

Primary Outcomes

• Allele and genotype frequencies of ABCB1 single nucleotide polymorphisms (3435C>T, 2677G>T/A, and 1236C>T) (Baseline (at the time of biological sampling and clinical assessment))

Secondary Outcomes

• 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))

Trial Locations

• Hôpital Lariboisière - Fernand Widal (AP - HP), Paris, France

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