| Title | Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole-genome sequencing from the Alzheimer's Disease Sequencing Project. |
| Publication Type | Journal Article |
| Year of Publication | 2024 |
| Authors | Lee, W-P, Choi, SHoan, Shea, MG, Cheng, P-L, Dombroski, BA, Pitsillides, AN, Heard-Costa, NL, Wang, H, Bulekova, K, Kuzma, AB, Leung, YYee, Farrell, JJ, Lin, H, Kunkle, BW, Naj, A, Blue, EE, Nusetor, F, Wang, D, Boerwinkle, E, Bush, WS, Zhang, X, De Jager, PL, Dupuis, J, Farrer, LA, Fornage, M, Martin, E, Pericak-Vance, M, Seshadri, S, Wijsman, EM, San Wang, L-, Schellenberg, GD, DeStefano, AL, Haines, JL, Peloso, GM |
| Corporate Authors | Alzheimer's Disease Sequencing Project |
| Journal | Alzheimers Dement |
| Date Published | 2024 Oct 20 |
| ISSN | 1552-5279 |
| Abstract | INTRODUCTION: Alzheimer's disease (AD) is a common disorder of the elderly that is both highly heritable and genetically heterogeneous. METHODS: We investigated the association of AD with both common variants and aggregates of rare coding and non-coding variants in 13,371 individuals of diverse ancestry with whole genome sequencing (WGS) data. RESULTS: Pooled-population analyses of all individuals identified genetic variants at apolipoprotein E (APOE) and BIN1 associated with AD (p DISCUSSION: We observed that complementary pooled-population and subgroup-specific analyses offered unique insights into the genetic architecture of AD. HIGHLIGHTS: We determine the association of genetic variants with Alzheimer's disease (AD) using 13,371 individuals of diverse ancestry with whole genome sequencing (WGS) data. We identified genetic variants at apolipoprotein E (APOE), BIN1, PSEN1, and LINC00320 associated with AD. We observed rare non-coding variants in the promoter of TOMM40 distinct of APOE. |
| DOI | 10.1002/alz.14283 |
| Alternate Journal | Alzheimers Dement |
| PubMed ID | 39428839 |
| Grant List | / AG / NIA NIH HHS / United States |