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NG00091 - Results of gene-based weighted burden analyses using SCOREASSOC and GENEVARASSOC applied to the ADSP discovery sample


Weighted burden analysis was applied to over 10,000 exome sequenced subjects from the Alzheimer's Disease Sequencing Project. Analyses were carried out to investigate whether rare genetic variants predicted to have a functional effect were more commonly seen in cases or in controls. Confirmatory results were obtained for TREM2, ABCA7 and SORL1.

Additional support was provided for PSEN1 (p = 0.0002), which previously had been only weakly implicated in LOAD. There was suggestive evidence that functional variants in C1R and EXOC5 might increase risk and that variants in TIAF1, GFRAL, SCG3 and GADD45G might have a protective effect. Overall, there was strong evidence (p = 4 x 10-7) that variants in tyrosine phosphatase genes reduce the risk of developing LOAD.

This dataset contains results and support files for the analysis of the exome sequencing data using the GRCh37 assembly for the Alzheimer's Disease Sequencing Project (ADSP) hosted at dbGaP (phs000572.v7.p4.c1-c6) as reported in the following publication: Weighted burden analysis of exome-sequenced late onset Alzheimer's cases and controls provides further evidence for a role for PSEN1 and suggests involvement of the PI3K/Akt/GSK-3β and WNT signalling pathways. Annals of Human Genetics. February 2020. 

Molecular Data Type


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