There are many active research projects accessing and applying shared ADNI data. Use the search above to find specific research focuses on the active ADNI investigations. This information is requested annually as a requirement for data access.
| Principal Investigator | |
| Principal Investigator's Name: | Kristel Sleegers |
| Institution: | University of Antwerp |
| Department: | VIB Center of Molecular Neurology |
| Country: | |
| Proposed Analysis: | In the frame of the European Innovative Medicines Iniative-funded EMIF-AD (http://www.emif.eu/emif-ad-2/) we have performed whole exome sequencing on 450 European individuals in the Alzheimer continuum (NC, MCI, AD, with or without biomarker positivity), and performed rare variant association analyses and mediation analyses on univariate and multivariate endophenotype outcomes , including CSF biomarker levels (Abeta 38, 40, 42; total and phospho tau; neurogranin, YKL40, NFL), MRI phenotypes (Fazekas score, L+R hippocampal volume, cortical thickness), and MMSE and composite measures of cognition. We are now seeking to replicate our exome-wide and suggestive significant hits and due to its design, ADNI is ideally suited for this. For example, for neurogranin we found 3 exome-wide significant hits and 14 suggestive hits. For Abeta and Ttau we found suggestive hits. We found exome-wide significant association for hippocampal volume , MMSE, and composite measures for attention, language and visuoconstruction. We would like to request access to GATK called WGS SNP and indel genotypes as well as phenotypes, and perform meta-SKAT analyses on these data to confirm or refute our hits. Please note, the IRB approval does not state an expiration date. Funding for EMIF-AD ended Dec 31, 2017, but data analysis on datasets gathered in the frame of EMIF-AD are still ongoing in the spirit of the grant. |
| Additional Investigators | |
| Investigator's Name: | Alexander Neumann |
| Proposed Analysis: | This investigator will be performing replication analyses of multivariate endophenotype analyses performed by means of multiSKAT and SKAT-O using endophenotype principal components |
| Investigator's Name: | Fahri Kucukali |
| Proposed Analysis: | This investigator will be performing replication analyses in meta-SKAT to validate exome-wide and suggested rare variant associations obtained through univariate endophenotype analyses performed by means of SKAT-O |
