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Principal Investigator  
Principal Investigator's Name: Dana Fraser
Institution: GlaxoSmithKline
Department: Human Genetics
Country:
Proposed Analysis: Motivation Alzheimer disease (AD) is a heterogeneous disease. With the new definition of AD as a biological disease, biomarkers are extremely valuable in identification of AD associated genetic variants. Objectives We aim to add neuroimaging analysis to integrate pathology correlated information to identify AD associated variants. Longitudinal analysis of biomarkers derived from neuroimaging techniques can reveal AD progression. Identifying disease progression associated genetic variants can bring light to casual genes and eliminate variants associating to dementia due to other diseases. Pathologically defined AD subtypes have been defined and studied. Regarding variation in the clinical presentation, age at onset, disease duration and rate of cognitive decline, identifying different genetic basis across subtypes is a step forward towards subtype-specific therapies. Hypothesis We hypotheses that some GWAS AD variants correlate to regional structural change over time. We hypotheses that some variants correlate to AD subtypes stratified using MRI data and tau-PET data. UPDATED (2020-07-10) :We want to access genes of interest interact at a specific disease stage. We will test the association between relevant SNPs genotypes with CSF protein level across disease progression. UPDATED (2021-05-19) :We have tested association between genotypes of a set of variants and disease-related CSF protein levels. Our results suggested that plasma protein related variants do not associate with CSF protein levels.
Additional Investigators