Expressive

rs10948363 - CD2AP

Magnitude 4.5 · 3 studies 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

  • Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease - Unknown journal (n.d.) · Unknown authors · PubMed 24162737

    ABSTRACT: Eleven susceptibility loci for late-onset Alzheimer's disease (LOAD) were identified by previous studies; however, a large portion of the genetic risk for this disease remains unexplained. We conducted a large, two-stage meta-analysis of genome-wide association studies (GWAS) in individuals of European ancestry. In stage 1, we used genotyped and imputed data (7,055,881 SNPs) to perform meta-analysis on 4 previously published GWAS data sets consisting of 17,008 Alzheimer's disease cases and 37,154 controls. In stage 2,11,632 SNPs were genotyped and tested for association in an independent set of 8,572 Alzheimer's disease cases and 11,312 controls. In addition to the APOE locus (encoding apolipoprotein E), 19 loci reached genome-wide significance (P < 5 × 10−8) in the comb

  • Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk - Unknown journal (n.d.) · Unknown authors · PubMed 30617256

    ABSTRACT: Alzheimer's disease (AD) is highly heritable and recent studies have identified over 20 disease-associated genomic loci. Yet these only explain a small proportion of the genetic variance, indicating that undiscovered loci remain. Here, we performed a large genome-wide association study of clinically diagnosed AD and AD-by-proxy (71,880 cases, 383,378 controls). AD-by-proxy, based on parental diagnoses, showed strong genetic correlation with AD (rg=0.81). Meta-analysis identified 29 risk loci, implicating 215 potential causative genes. Associated genes are strongly expressed in immune-related tissues and cell types (spleen, liver and microglia). Gene-set analyses indicate biological mechanisms involved in lipid-related processes and degradation of amyloid precursor proteins. We

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.