La construcción automática de las marcas predicativas de los verbos de movimiento a partir del Diccionario del Español Actual.

Functional Grammar Workbeneh (FGW) se concibe como un laboratorio virtual de ingeniería lingüística dentro del marco de la Gramática Funcional de Simon C. Dik. Uno de los métodos más utilizados para la construcción de lexicones computacionales extensos es el análisis automático de diccionarios legibles por la máquina. La presente versión de FGW permite a este respecto la construcción automática de los marcos predicativos de los verbos de movimiento en español a partir de las entradas léxicas del Diccionario del Español Actual (1999) de Manuel Seco, Olimpia Andrés y Gabino Ramos. Una de las razones por la que hemos elegido este diccionario se encuentra en el hecho de que se procura seguir con mayor rigor el modelo de definición sinonímica: la verdadera definición se deslinda del entorno sintagmático del término titular

Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes

Across multiancestry groups, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinson’s disease (PD) and Alzheimer’s disease (AD) versus controls. We demonstrate that the two diseases share the same protective association at the HLA locus. HLA-specific fine-mapping showed that hierarchical protective effects of HLA-DRB1*04 subtypes best accounted for the association, strongest with HLA-DRB1*04:04 and HLA-DRB1*04:07, and intermediary with HLA-DRB1*04:01 and HLA-DRB1*04:03. The same signal was associated with decreased neurofibrillary tangles in postmortem brains and was associated with reduced tau levels in cerebrospinal fluid and to a lower extent with increased Aβ42. Protective HLA-DRB1*04 subtypes strongly bound the aggregation-prone tau PHF6 sequence, however only when acetylated at a lysine (K311), a common posttranslational modification central to tau aggregation. An HLA-DRB1*04-mediated adaptive immune response decreases PD and AD risks, potentially by acting against tau, offering the possibility of therapeutic avenues

WATERSensing: A Smart Warning System for Natural Disasters in Spain

[EN] Floods are expected to increase in the coming years due to global warming. The early identification of water-based disasters can be lifesaving, and the challenge is to identify appropriate and timely warning measures. Social-media tools such as Twitter provide citizens with a real-time communication channel for reporting problems related to our environment, which allows humans to act as social sensors. In this article, we show the main results and lessons learned from the research project WATERoT, funded by the Spanish government. In this project, we designed a social sensing application (called WATERSensing) for the prevention and evaluation of water-related disasters with the participation of individuals through social networks. This tool crawls microtexts from different social networks such as Twitter, RSS feeds, or Telegram, which are analyzed with natural language processing techniques. A case study of Storm Gloria, a Mediterranean storm that heavily affected eastern Spain in January 2020, is presented to evidence that the system can correlate data from social media with actual events. We demonstrate that the analysis of different sources of information opens up new opportunities in the development of warning systems for the prevention, early identification, and management of natural disasters.This work was supported in part by the Spanish Ministry of Science and Innovation under Grant RYC2018-025580-I, Grant RTI2018-096384-B-I00, Grant RTC-2017-6389-5, and Grant RTC2019007159-5; in part by the Fundacion Seneca del Centro de Coordinacion de la Investigacion de la Region de Murcia under Project 20813/PI/18; and in part by the European Union's Horizon 2020 Research and Innovation Programme under Grant 101017861.Cecilia-Canales, JM.; Cano, J.; Tavares De Araujo Cesariny Calafate, CM.; Manzoni, P.; Periñán-Pascual, C.; Arcas-Túnez, F.; Muñoz-Ortega, A. (2021). WATERSensing: A Smart Warning System for Natural Disasters in Spain. IEEE Consumer Electronics Magazine. 10(6):89-96. https://doi.org/10.1109/MCE.2021.3063703S899610

The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population‐Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight

The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture of neurodegenerative diseases. To perform the largest PD genome-wide association study restricted to a single country. We performed a GWAS for both risk of PD and age at onset in 7,849 Spanish individuals. Further analyses included population-specific risk haplotype assessments, polygenic risk scoring through machine learning, Mendelian randomization of expression, and methylation data to gain insight into disease-associated loci, heritability estimates, genetic correlations, and burden analyses. We identified a novel population-specific genome-wide association study signal at PARK2 associated with age at onset, which was likely dependent on the c.155delA mutation. We replicated four genome-wide independent signals associated with PD risk, including SNCA, LRRK2, KANSL1/MAPT, and HLA-DQB1. A significant trend for smaller risk haplotypes at known loci was found compared to similar studies of non-Spanish origin. Seventeen PD-related genes showed functional consequence by two-sample Mendelian randomization in expression and methylation data sets. Long runs of homozygosity at 28 known genes/loci were found to be enriched in cases versus controls. Our data demonstrate the utility of the Spanish risk haplotype substructure for future fine-mapping efforts, showing how leveraging unique and diverse population histories can benefit genetic studies of complex diseases. The present study points to PARK2 as a major hallmark of PD etiology in Spain. © 2019 International Parkinson and Movement Disorder Society

The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.

The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture of neurodegenerative diseases. To perform the largest PD genome-wide association study restricted to a single country. We performed a GWAS for both risk of PD and age at onset in 7,849 Spanish individuals. Further analyses included population-specific risk haplotype assessments, polygenic risk scoring through machine learning, Mendelian randomization of expression, and methylation data to gain insight into disease-associated loci, heritability estimates, genetic correlations, and burden analyses. We identified a novel population-specific genome-wide association study signal at PARK2 associated with age at onset, which was likely dependent on the c.155delA mutation. We replicated four genome-wide independent signals associated with PD risk, including SNCA, LRRK2, KANSL1/MAPT, and HLA-DQB1. A significant trend for smaller risk haplotypes at known loci was found compared to similar studies of non-Spanish origin. Seventeen PD-related genes showed functional consequence by two-sample Mendelian randomization in expression and methylation data sets. Long runs of homozygosity at 28 known genes/loci were found to be enriched in cases versus controls. Our data demonstrate the utility of the Spanish risk haplotype substructure for future fine-mapping efforts, showing how leveraging unique and diverse population histories can benefit genetic studies of complex diseases. The present study points to PARK2 as a major hallmark of PD etiology in Spain. © 2019 International Parkinson and Movement Disorder Society

Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease

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