Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers

Amyloid-beta 42 (A beta 42) and phosphorylated tau (pTau) levels in cerebrospinal fluid (CSF) reflect core features of the pathogenesis of Alzheimer's disease (AD) more directly than clinical diagnosis. Initiated by the European Alzheimer & Dementia Biobank (EADB), the largest collaborative effort on genetics underlying CSF biomarkers was established, including 31 cohorts with a total of 13,116 individuals (discovery n = 8074; replication n = 5042 individuals). Besides the APOE locus, novel associations with two other well-established AD risk loci were observed; CR1 was shown a locus for A beta 42 and BIN1 for pTau. GMNC and C16orf95 were further identified as loci for pTau, of which the latter is novel. Clustering methods exploring the influence of all known AD risk loci on the CSF protein levels, revealed 4 biological categories suggesting multiple A beta 42 and pTau related biological pathways involved in the etiology of AD. In functional follow-up analyses, GMNC and C16orf95 both associated with lateral ventricular volume, implying an overlap in genetic etiology for tau levels and brain ventricular volume.Peer reviewe

Volcanes en movimiento: El Hierro y La Palma

Paneles expositivos para la divulgación del volcanismo en las islas de El Hiero y La Palma en colaboración con la Asociación Española para la Enseñanza de las Ciencias de la Tierra (AEPECT)[EN] We explain the geological history of the island of El Hierro and the 2021 eruption in the island of La Palma through a collection of ten panels. How the Canary Islands were formed and evolved is contextualized, and we introduce the birth of El Hierro. Next, we observe the landscapes of El Hierro as a response to macro-scale, such as giant landslides and rifts, and micro-scale phenomena (cones, lavas, and shore platforms). The last eruption of the island that gave rise to the Tagoro submarine volcano is also exposed. In addition, we present how the Herreños have adapted to the territory, knowing how to take advantage of its scarce water resources and adapt their way of life to the volcanic landscape, achieving that the entire island was declared in 2000 a UNESCO World Biosphere Reserve and Geopark in 2015. Finally, we expose the 2021 eruption of La Palma island.[ES] A través de una colección de diez paneles se explica la historia geológica de la isla de El Hierro y la erupción de 2021 en la isla de La Palma. Se contextualiza cómo se formaron y evolucionaron las Islas Canarias y se introduce el nacimiento de El Hierro. A continuación, se observan los paisajes herreños como respuesta a fenómenos de macroescala, como los deslizamientos gigantes y las dorsales (rifts), y microescala (conos, lavas e islas bajas). Se expone la última erupción de la isla que dio lugar al volcán submarino Tagoro. Se presenta cómo los herreños se han adaptado al territorio, sabiendo aprovechar sus escasos recursos hídricos y adaptando su modo de vida al paisaje volcánico que le rodea, consiguiendo que la isla al completo haya sido declarada por la UNESCO Reserva Mundial de la Biosfera en el año 2000 y Geoparque en el año 2015. Finalmente, se expone la erupción de 2021 en la vecina isla de La Palma.Project LAJIAL (ref. PGC2018-101027-B-I00, MCIU/AEI/FEDER, EU). Research Consolidated Groups GEOVOL (Canary Islands Government, ULPGC) and GEOPAM (Generalitat de Catalunya, 2017 SGR 1494).dc.description.tableofcontents: Filename 01: Panel01-VolcanesMovimiento-AEPECT.pdf; Filename 02: Panel02-VolcanesMovimiento-AEPECT.pdf; Filename 03: Panel03-VolcanesMovimiento-AEPECT.pdf; Filename 04: Panel04-VolcanesMovimiento-AEPECT,pdf; Filename 05: Panel05-VolcanesMovimiento-AEPECT.pdf; Filename 06: Panel06-VolcanesMovimiento-AEPECT.pdf; Filename 07: Panel07-VolcanesMovimiento-AEPECT.pdf; Filename 08: Panel08-VolcanesMovimiento-AEPECT.pdf; Filename 09: Panel09-VolcanesMovimiento-AEPECT.pdf; Filename 10: Panel10-VolcanesMovimiento-AEPECT.pdfN

Volcanoes in motion

[EN] We explain the geological history of the island of El Hierro through a collection of eight panels. How the Canary Islands were formed and evolved is contextualized, and we introduce the birth of El Hierro. Next, we observe the landscapes of El Hierro as a response to macro-scale, such as giant landslides and rifts, and micro-scale phenomena (cones, lavas, and shore platforms). The last eruption of the island that gave rise to the Tagoro submarine volcano is also exposed. Finally, we present how the Herreños have adapted to the territory, knowing how to take advantage of its scarce water resources and adapt their way of life to the volcanic landscape, achieving that the entire island was declared in 2000 a UNESCO World Biosphere Reserve and Geopark in 2015.[ES] A través de una colección de ocho paneles se explica la historia geológica de la isla de El Hierro. Se contextualiza cómo se formaron y evolucionaron las Islas Canarias y se introduce el nacimiento de El Hierro. A continuación, se observan los paisajes herreños como respuesta a fenómenos de macroescala, como los deslizamientos gigantes y las dorsales (rifts), y microescala (conos, lavas e islas bajas). Se expone la última erupción de la isla que dio lugar al volcán submarino Tagoro. Finalmente, se presenta cómo los herreños se han adaptado al territorio, sabiendo aprovechar sus escasos recursos hídricos y adaptando su modo de vida al paisaje volcánico que le rodea, consiguiendo que la isla al completo haya sido declarada por la UNESCO Reserva Mundial de la Biosfera en el año 2000 y Geoparque en el año 2015.Project LAJIAL (ref. PGC2018-101027-B-I00, MCIU/AEI/FEDER, EU)Research Consolidated Group GEOVOL (Canary Islands Government, ULPGC)Research Consolidated Group GEOPAM (Generalitat de Catalunya, 2017 SGR 1494)N

Volcanoes in motion: El Hierro and La Palma (Canary Islands)

Ten informative panels were designed to organize an exhibition of the LAJIAL project results about the recent volcanism of El Hierro Island and the 2021 eruption in La Palma Island. The format was self-rolling panels (roll-ups) 1 m wide by 2 m high, easily transportable, and highly protective. This exhibition was entitled 'Volcanoes in motion: El Hierro and La Palma' and allows us to understand that the volcanic phenomenon is very dynamic and capable of quickly changing the forms of relief, the water network, or the land use. The presentation in all these panels always keeps the same content: an upper strip including the titles of the exhibition, the thematic block, and the panel, as well as its numbering and logos of the promoting entities; a central part with much visual information in the form of maps, figures and photos accompanied by concise and easy-to-read texts; and a lower strip with the credits of the authors and logos of their institutions. The first block of panels, 'A sea of volcanoes', deals with the generation of intraplate volcanic islands, with the example of the Canary Islands (Panel 1: The Canary Islands, that is how it all began) and the geological evolution of the island of El Hierro (Panel 2: And El Hierro was born). The second block, 'Volcanic landscapes of El Hierro', focuses on geological structures on a large scale (Panel 3: Megastructures) and a small scale (Panel 4: Structures on the ground). The third block, 'Explore your volcanic paradise', pays homage to the geological maps and the last eruption on El Hierro island. Panel 5: Walking among volcanoes shows the Gorona del Lajial eruption, a true paradise of volcanic structures but a geological puzzle solved within the framework of the LAJIAL project. Panel 6: 'The last volcano' is dedicated to the eruption of the Tagoro submarine volcano. The fourth block, 'Living among volcanoes', focuses on the islander's adaptation to the volcanic territory through the rational exploitation of groundwater (Panel 7: Water on El Hierro), volcanic materials as construction elements, or the figure of the UNESCO Geopark of El Hierro (Panel 8: What the land tells us), which brings together the geology of the island with its inhabitants, promoting the sustainable development, its agricultural techniques or knowledge of its archaeological remains. The last block of two panels, 'La Palma: the pretty island' is devoted to the geological evolution of La Palma island (Panel 9: And La Palma was born) and the 2021 eruption of Tajogaite volcano (Panel 10: The eruption of 2021) that represent the last volcanic activity in the archipelago.Project LAJIAL, Grant PGC2018-101027-B-I00 funded by MCIN/AEI/10.13039/ 501100011033 and by "ERDF A way of making Europe", by the "European Union"PhD Grant 2021 FISDU 00347, Departament de Recerca i Universitats, Generalitat de CatalunyaResearch Consolidated Group GEOVOL (Universidad de Las Palmas de Gran Canaria)Research Consolidated Group GEOPAM (Generalitat de Catalunya, 2017 SGR 1494)Peer reviewe

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele