A genome‐wide association meta‐analysis of all‐cause and vascular dementia

Fongang, Bernard (2024): A genome‐wide association meta‐analysis of all‐cause and vascular dementia. In: Alzheimer's & Dementia, Bd. 20, Nr. 9: S. 5973-5995

Abstract

Introduction : Dementia is a multifactorial disease with Alzheimer’s disease (AD)and vascular dementia (VaD) pathologies making the largest contributions. Yet, mostgenome-wide association studies (GWAS) focus on AD. Methods : We conducted a GWAS of all-cause dementia (ACD) and examined thegenetic overlap with VaD. Our dataset includes 800,597 individuals, with 46,902 and8702 cases of ACD and VaD, respectively. Known AD loci for ACD and VaD were repli-cated. Bioinformatic analyses prioritized genes that are likely functionally relevant andshared 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), andmagnetic resonance imaging markers of small vessel disease (SVD; HBEGF). Novel VaDloci were associated with hypertension, diabetes, and neuron maintenance (SPRY2,FOXA2, AJAP1, and PSMA3). Discussion: Our study identified genetic risks underlying ACD, demonstratingoverlap with neurodegenerative processes, vascular risk factors, and cerebral SVD.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin > Munich Cluster for Systems Neurology (SyNergy)
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 1552-5260
• Bemerkung: Autorengruppe "The Mega Vascular Cognitive Impairment and Dementia (MEGAVCID) consortium"
• Sprache: Englisch
• DFG: Gefördert durch die Deutsche Forschungsgemeinschaft (DFG) - 390857198