The project goal is to perform whole-genome sequencing (WGS) on Alzheimer’s disease (AD) cases to identify both common and uncommon variants associated with AD-related phenotypes (e.g., disease progression, survival time). All subjects were Caucasians with probable or possible having age at onset of 60 or above. Whole-genome sequencing was performed using Illumina HiSeqX.
Ilyas Kamboh, PhD
University of Pittsburgh
This study is supported by NIH grants R01 AG030653, R01 AG041718, and P30 AG066468.
Acknowledgment statement for any data distributed by NIAGADS:
Data for this study were prepared, archived, and distributed by the National Institute on Aging Alzheimer's Disease Data Storage Site (NIAGADS) at the University of Pennsylvania (U24-AG041689), funded by the National Institute on Aging.
For investigators using UPitt Kamboh data:
This study was supported by the National Institute on Aging (NIA) grants AG030653, AG041718, AG064877 and P30-AG066468.
Fan KH, Feingold E, Rosenthal SL, Demirci FY, Ganguli M, Lopez OL, Kamboh MI. Whole-exome sequencing (WES) analysis of Alzheimer’s disease in non-APOE*4 carriers. J Alzheimers Dis; 2020; 76:1553-1565. PMID: 32651314.
Wang X, Lopez OL, Sweet RA, Becker JT, DeKosky ST, Barmada MM, Demirci FY, Kamboh MI. Genetic determinants of disease progression in Alzheimer’s disease. J Alzheimers Dis 2015; 43:649-655. PMID: 25114068.
Kamboh MI, Demirci FY, Wang X, Minster RL, Carrasquilli MM, Pankratz VS, Younkin SG, Saklin AJ, for the Alzheimer’s Neuroimagig Initiative, Jun G, Baldwin C, Logue MW, Buros J, Farrer L, Pericak-Vance MA, Haines JL, Sweet RA, Ganguli M, Feingold E, DeKosky ST, Lopez OL, Barmada MM: Genome-wide association study of Alzheimer’s disease.; Transl Psychiatry 2012; 2, e117, doi:10.1038/tp.2012.45. PMID: 22832961.
Kamboh MI, Barmada MM, Demirci FY, Minster RL, Carrasquillo MM, Pankratz VS, Younkin SG, Saykin AJ, The Alzheimer’s Disease Neuroimaging Initiative, Sweet RA, Feingold E, DeKosky ST, Lopez OL. Genome-wide association analysis of age-at-onset in Alzheimer’s disease. Mol Psychiatry 2012; 17: 1340-1346. PMID: 22005931.