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00925njm 22002777a 4500 dc Moreno-Grau, Sonia author de Rojas, Itziar author Hernández, Isabel author Quintela, Inés author Montrreal, Laura author Alegret, Montserrat author Hernández-Olasagarre, Begoña author Madrid, Laura author González-Pérez, Antonio author Maroñas, Olalla author Rosende-Roca, Maitée author Mauleón, Ana author Vargas, Liliana author Lafuente, Asunción author Abdelnour, Carla author Rodríguez-Gómez, Octavio author Gil, Silvia author Santos-Santos, Miguel Ángel author Espinosa, Ana author Ortega, Gemma author Sanabria, Ángela author Pérez-Cordón, Alba author Cañabate, Pilar author Moreno, Mariola author Preckler, Silvia author Ruiz, Susana author Aguilera, Nuria author Pineda, Juan Antonio author Macías, Juan author Alarcón-Martín, Emilio author Sotolongo-Grau, Oscar author Marquié, Marta author Monté-Rubio, Gemma author Valero, Sergi author Benaque, Alba author Clarimón, Jordi author Bullido, María Jesús author Garcia-Ribas, Guillermo author Pástor, Pau author Sánchez-Juan, Pascual author Álvarez, Victoria author Piñol-Ripoll, Gerard author García-Alberca, Jose María author Royo, José Luis author Franco, Emilio author Mir, Pablo author Calero, Miguel author Medina, Miguel author Rábano, Alberto author Ávila, Jesús author Antúnez, Carmen author Real, Luis Miguel author Orellana, Adelina author Carracedo, Ángel author Sáez, María Eugenia author Tárraga, Lluís author Boada, Mercè author Ruiz, Agustín author 2019 Introduction: Large variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways. Methods: Genome Research at Fundacio ACE (GR@ACE) is a genome-wide study of dementia and its clinical endophenotypes, defined based on AD's clinical certainty and vascular burden. We assessed the impact of known AD loci across endophenotypes to generate loci categories. We incorporated gene coexpression data and conducted pathway analysis per category. Finally, to evaluate the effect of heterogeneity in genetic studies, GR@ACE series were meta-analyzed with additional genome-wide association study data sets. Results: We classified known AD loci into three categories, which might reflect the disease clinical heterogeneity. Vascular processes were only detected as a causal mechanism in probable AD. The meta-analysis strategy revealed the ANKRD31-rs4704171 and NDUFAF6-rs10098778 and confirmed SCIMP-rs7225151 and CD33-rs3865444. Discussion: The regulation of vasculature is a prominent causal component of probable AD. GR@ACE meta-analysis revealed novel AD genetic signals, strongly driven by the presence of clinical heterogeneity in the AD series. Moreno-Grau S, De Rojas I, Hernandez I, Quintela I, Montrreal L, Alegret M, et al. Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project. Alzheimers Dement. 2019 Oct;15(10):1333-47. 10.1016/j.jalz.2019.06.4950 1552-5279 Alzheimer's & dementia : the journal of the Alzheimer's Association http://hdl.handle.net/20.500.13003/17141 31473137 L2003282292 2-s2.0-85072869719 http://hdl.handle.net/20.500.12105/12785 490148500009 Alzheimer's disease Biological pathway Cerebral amyloid angiopathy GWAS Vascular pathology Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GRaACE project.