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Principal Investigator  
Principal Investigator's Name: Alesha Heath
Institution: Stanford
Department: Psychiatry and Behavioural Sciences
Proposed Analysis: My research is interested the association of Variable Number Tandem Repeats with Alzhiemer’s Disease. These are a type of genetic polymorphism which have generally been overlooked in widescale genetic association studies in the past. We have previously conducted analysis of whole genome sequence (WGS) data from ADSP using VNTRseek. Our previous work using the ADSP data has demonstrated the feasibility of running whole genome VNTR analysis. This software genotypes approx. 100,000 tandem repeats of interest, mapping sequencing reads to the reference TRs and uses three identifying criteria to genotype VNTRs: longest common subsequence comparison of repeated patterns, alignment to reference TR arrays and alignment of flanking sequences. We have previously analyzed a subset of the ADSP database of WGS data for VNTRs which includes the ADNI whole genome data to prove the feasibility of this type of analysis, from this pilot study we identified a number of new VNTRs of interest associated with AD. We are now proposing a follow up study where we would like to investigate the association of VNTRs to the neuropathological traits of AD and the potential biological consequences of VNTRs in AD. We want to use biomarker profiles from ADNI including combinations of CSF Aβ-42 and Aβ PET, CSF p-tau and tau PET, and MRI determined atrophy to create an additive linear model to analyze effect of VNTR alleles on these phenotypic measures. We will also perform secondary analysis on the ADNI longitudinal clinical assessments and imaging data within AD cases to assess the potential for predicting disease progression with VNTRs. In addition, we would like to examine the biological consequences of VNTRs in AD. We are interested in investigating whether VNTR genotypes affect various measures also in the ADNI database including gene expression, methylation profiles and potential proteomic targets.
Additional Investigators