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.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute on Aging (NIA)
Type
Investigator-Initiated Intramural Research Projects (ZIA)
Project #
1ZIAAG000950-11
Application #
8552526
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
11
Fiscal Year
2012
Total Cost
$594,639
Indirect Cost

  Institution

Name
National Institute on Aging
Department
Type
DUNS #
City
State
Country
Zip Code

  Publications

Sassi, Celeste; Nalls, Michael A; Ridge, Perry G et al. (2018) Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3. Neurobiol Aging 66:179.e17-179.e29
Sargent, Lana; Nalls, Mike; Starkweather, Angela et al. (2018) Shared biological pathways for frailty and cognitive impairment: A systematic review. Ageing Res Rev 47:149-158
Ridge, Perry G; Karch, Celeste M; Hsu, Simon et al. (2018) Correction to: Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience. Genome Med 10:4
Chaudhury, Sultan; Patel, Tulsi; Barber, Imelda S et al. (2018) Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer's disease. Neurobiol Aging 62:244.e1-244.e8
Barber, Imelda S; Braae, Anne; Clement, Naomi et al. (2017) Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array. Neurobiol Aging 49:215.e1-215.e8
Patel, T; Brookes, K J; Turton, J et al. (2017) Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease. Neuropathol Appl Neurobiol :
Mapstone, Mark; Lin, Feng; Nalls, Mike A et al. (2017) What success can teach us about failure: the plasma metabolome of older adults with superior memory and lessons for Alzheimer's disease. Neurobiol Aging 51:148-155
Bras, Jose; Djaldetti, Ruth; Alves, Ana Margarida et al. (2016) Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation. Neurobiol Aging 46:236.e1-6
Guerreiro, Rita; Escott-Price, Valentina; Darwent, Lee et al. (2016) Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases. Neurobiol Aging 38:214.e7-214.e10
Barber, Imelda S; García-Cárdenas, Jennyfer M; Sakdapanichkul, Chidchanok et al. (2016) Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer's disease. Neurobiol Aging 39:220.e1-7

Showing the most recent 10 out of 45 publications