@article{10902/35133,
year = {2024},
url = {https://hdl.handle.net/10902/35133},
abstract = {Methods: We conducted a GWAS of all-cause dementia (ACD) and examined the genetic overlap with VaD. Our dataset includes 800,597 individuals, with 46,902 and 8702 cases of ACD and VaD, respectively. Known AD loci for ACD and VaD were replicated. Bioinformatic analyses prioritized genes that are likely functionally relevant and shared with closely related traits and risk factors.
Results: For ACD, novel loci identified were associated with energy transport (SEMA4D), neuronal excitability (ANO3), amyloid deposition in the brain (RBFOX1), and magnetic resonance imaging markers of small vessel disease (SVD; HBEGF). Novel VaD loci were associated with hypertension, diabetes, and neuron maintenance (SPRY2, FOXA2, AJAP1, and PSMA3).
Discussion: Our study identified genetic risks underlying ACD, demonstrating overlap with neurodegenerative processes, vascular risk factors, and cerebral SVD.},
organization = {We thank the many study participants, researchers, and staff for collecting and contributing to the data. This project was conducted within the neurology working group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. The CHARGE cohorts are supported in part by the National Heart, Lung, and Blood Institute (NHLBI) infrastructure grants R01HL105756 (Psaty), RC2HL102419 (Boerwinkle) and the neurology working group is supported by the National Institute on Aging (NIA) R01 grant AG033193. Additional funding sources include the UT Health San Antonio Center for Biomedical Neuroscience (CBN) and grants from the NIA (AG059421, AG054076, AG049607, AG033090, AG066524, P30 AG066546, 5P30AG059305- 03, RF1 AG061729A1, 5U01AG052409-04) and NINDS (NS017950, UF1NS125513, K01NS126489). Funding sources for each cohort are listed in Supplementary File 2.},
publisher = {John Wiley & Sons},
publisher = {Alzheimer's & Dementia: the Journal of the Alzheimer's Association, 2024, 20, 5973-5995},
title = {A genome-wide association meta-analysis of all-cause and vascular dementia},
author = {Fongang, Bernard and Sargurupremraj, Muralidharan and Jian, Xueqiu and Mishra, Aniket and Damotte, Vincent and Rojas, Itiziar de and Skrobot, Olivia and Bis, Joshua C. and Fan, Kang-Hsien and Jacobsen, Erin and Li, Gloria Hoi-Yee and Yan, Jingyun and Alessandra, Bizzarro and Alessandra, Lauria and Hilal, Saima and Chong, Joyce Ruifen and Chai, Yuek Ling and Knol, M. J. and Rodríguez Rodríguez, Eloy Manuel},
}