rs117834366 - CNTNAP2

Magnitude 4.5 · 1 study on file

Reported associations

• 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. - Alzheimer's & dementia : the journal of the Alzheimer's Association (2020) · Moreno-Grau S, de Rojas I, Hernández I, Quintela I, Montrreal L, Alegret M, Hernández-Olasagarre B, Madrid L, González-Perez A, Maroñas O, Rosende-Roca M, Mauleón A, Vargas L, Lafuente A, Abdelnour C, Rodríguez-Gómez O, Gil S, Santos-Santos MÁ, Espinosa A, Ortega G, Sanabria Á, Pérez-Cordón A, Cañabate P, Moreno M, Preckler S, Ruiz S, Aguilera N, Pineda JA, Macías J, Alarcón-Martín E, Sotolongo-Grau O, Marquié M, Monté-Rubio G, Valero S, Benaque A, Clarimón J, Bullido MJ, García-Ribas G, Pástor P, Sánchez-Juan P, Álvarez V, Piñol-Ripoll G, García-Alberca JM, Royo JL, Franco E, Mir P, Calero M, Medina M, Rábano A, Ávila J, Antúnez C, Real LM, Orellana A, Carracedo Á, Sáez ME, Tárraga L, Boada M, Ruiz A · PubMed 31473137

  Large variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways. 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. We classified known AD loci into three categories, which might reflect the disease clinical heterogeneity. Vascular processes were only detected a

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