Search results for "Register"
showing 10 items of 198 documents
Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders
2018
International audience; C-reactive protein (CRP) is a sensitive biomarker of chronic low-grade inflammation and is associated with multiple complex diseases. The genetic determinants of chronic inflammation remain largely unknown, and the causal role of CRP in several clinical outcomes is debated. We performed two genome-wide association studies (GWASs), on HapMap and 1000 Genomes imputed data, of circulating amounts of CRP by using data from 88 studies comprising 204,402 European individuals. Additionally, we performed in silico functional analyses and Mendelian randomization analyses with several clinical outcomes. The GWAS meta-analyses of CRP revealed 58 distinct genetic loci (p < 5 × 1…
A Genome-Wide Association Meta-Analysis of Attention-Deficit/Hyperactivity Disorder Symptoms in Population-Based Pediatric Cohorts
2016
OBJECTIVE: The aims of this study were to elucidate the influence of common genetic variants on childhood attention-deficit/hyperactivity disorder (ADHD) symptoms, to identify genetic variants that explain its high heritability, and to investigate the genetic overlap of ADHD symptom scores with ADHD diagnosis. METHOD: Within the EArly Genetics and Lifecourse Epidemiology (EAGLE) consortium, genome-wide single nucleotide polymorphisms (SNPs) and ADHD symptom scores were available for 17,666 children (<13 years of age) from nine population-based cohorts. SNP-based heritability was estimated in data from the three largest cohorts. Meta-analysis based on genome-wide association (GWA) analyses w…
Harmonising and linking biomedical and clinical data across disparate data archives to enable integrative cross-biobank research
2015
A wealth of biospecimen samples are stored in modern globally distributed biobanks. Biomedical researchers worldwide need to be able to combine the available resources to improve the power of large-scale studies. A prerequisite for this effort is to be able to search and access phenotypic, clinical and other information about samples that are currently stored at biobanks in an integrated manner. However, privacy issues together with heterogeneous information systems and the lack of agreed-upon vocabularies have made specimen searching across multiple biobanks extremely challenging. We describe three case studies where we have linked samples and sample descriptions in order to facilitate glo…
Short telomere length is associated with impaired cognitive performance in European ancestry cohorts
2017
AbstractThe association between telomere length (TL) dynamics on cognitive performance over the life-course is not well understood. This study meta-analyses observational and causal associations between TL and six cognitive traits, with stratifications on APOE genotype, in a Mendelian Randomization (MR) framework. Twelve European cohorts (N=17 052; mean age=59.2±8.8 years) provided results for associations between qPCR-measured TL (T/S-ratio scale) and general cognitive function, mini-mental state exam (MMSE), processing speed by digit symbol substitution test (DSST), visuospatial functioning, memory and executive functioning (STROOP). In addition, a genetic risk score (GRS) for TL includin…
Newly Digitized Database Reveals the Lives and Families of Forced Migrants from Finnish Karelia
2017
Studies on displaced persons often suffer from a lack of data on the long-term effects of forced migration. A register created during 1960s and published as a book series ‘Siirtokarjalaisten tie’ in 1970 documented the lives of individuals who fled the southern Karelian district of Finland after its first and second occupation by the Soviet Union in 1940 and 1944. To realize the potential value of these data for scientific research, we have recently scanned the register using optical character recognition (OCR) software, and developed proprietary computer code to extract these data. Here we outline the steps involved in the digitization process, and present an overview of the Migration Kare…
Tracing the indexicalization of the notion "Helsinki s"
2017
AbstractEarlier research has concluded that there is a strong symbolic relationship between Helsinki as a place and non-standard /s/ pronunciation. This phenomenon is likewise in continuous evidence in the Finnish media and social media. The notion of “Helsinki s” has become a folk linguistic fact although it lacks a clear linguistic correlate or even status as a linguistic fact. The only sibilant of the Finnish language is officially a voiceless alveolar, while the “Helsinki s” is most often discussed as “hissing”, “sharp” or “fronted”. However, according to recent research based on listening tasks, any /s/ may be designated and discussed as a “Helsinki s” if the speaker is regarded as a H…
Analysing metaphor in the family register through scripted sitcom conversations
2017
Abstract This study looks into the patterns of metaphor use in the family register of scripted sitcom conversations. Previous studies of metaphor in conversation adopted different approaches to the concept of register, resulting in a rich but complex picture (Cameron, 2003, 2007, 2008; Deignan, Littlemore & Semino, 2013; Kaal, 2012). This research attempts to reduce such complexity by using an approach to register based on closely defining communicative settings and the participants’ roles (Giménez-Moreno, 2006). In this way, we were able to focus on the register used by family members and close friends and the contexts of private oral communication, as opposed to other possible registe…
ROLES AND REGISTERS IN DIGITAL FORUM INTERACTION: DEVELOPING A COMMUNICATIVE IDENTITY-BASED APPROACH TO REGISTER VARIATION
2017
espanolEl presente articulo estudia como los roles y registros comunicativos se expresan de forma interdependiente, influenciandose mutuamente en los actuales foros digitales. En la primera parte, y a partir de la combinacion de estudios previos sobre variacion de registros comunicativos, la teoria de la identidad social y la linguistica cognitiva, se proponen tres nuevos conceptos para el analisis discursivo: ‘Rol Modulador de Registro’ (RMR), ‘brujula del registro’ y ‘registro-pivote’. La forma en la que funcionan en el discurso digital se ilustra en la segunda parte, con el analisis de un corpus de foros de discusion. Los resultados demuestran que cada perfil de foro despliega una gama d…
La inscripción de las parejas estables españolas: la necesidad de un registro único en cada Comunidad Autónoma
2016
El presente trabajo examina los problemas generados por la diversidad de formas registrales de las parejas estables en España, atendiendo, de manera singular, al caso de Navarra, para concluir la necesidad de que exista un registro único en cada Comunidad Autónoma. This paper examines the problems generated by the numerous ways of inscribing stable couples in Spain, focusing on Navarre´s example, to conclude that it is necessary to have an unique register in each Autonomous Community.
Different approaches to marriage downgrading : from an anti-elusive measure to an antidiscriminatory claim
2021
The essay focuses on the different mechanisms of marriage downgrading. Given the principle of ?cross-border continuity? of statuses, limits to this continuity are sometimes admitted and they are placed through downgrading mechanisms. That can occour in the case of same-sex marriages transcription in a Member State which does not allow such marriages, but which does allow samesex registered partnerships. Downgrading mechanism has an anti-elusive function, but it is not without problems in terms of discrimination on the grounds of sexual orientation. A different approach is taken in the case of an opposite-sex couple requesting the downgrading of their marriage, celebrated before the Member S…