Genetic Analysis Of Alzheimer s Disease

National Institute On Aging

Investigators

Linked publications & trials

Abstract

We continue to be a contributor to the reanalysis of large tracts of genome wide association data and much of this work, which identifies several new loci, and a converging molecular pathway, has been published. We have expanded this work to characterize the extent of genetic variability at the CLU and PICALM loci, and to examine the role of variants in these and other loci as quantitative trait loci. In this respect our efforts have used the reference data generated within our laboratory that facilitates testing association between candidate variants and gene expression and/or proximal DNA methylation. In addition, we are currently working with collaborators at UCL to perform exome sequencing on families and individuals with Alzheimer's disease; this work aims to identify moderate- to high-risk variants associated with disease. Most recently our efforts using second generation sequencing have lead to the identification of TREM2 variants as a risk factor for Alzheimer's disease.