FTO genetic variants, dietary intake and body mass index: insights from 177,330 individuals.

FTO is the strongest known genetic susceptibility locus for obesity. Experimental studies in animals suggest the potential roles of FTO in regulating food intake. The interactive relation among FTO variants, dietary intake and body mass index (BMI) is complex and results from previous often small-scale studies in humans are highly inconsistent. We performed large-scale analyses based on data from 177,330 adults (154 439 Whites, 5776 African Americans and 17 115 Asians) from 40 studies to examine: (i) the association between the FTO-rs9939609 variant (or a proxy single-nucleotide polymorphism) and total energy and macronutrient intake and (ii) the interaction between the FTO variant and dietary intake on BMI. The minor allele (A-allele) of the FTO-rs9939609 variant was associated with higher BMI in Whites (effect per allele = 0.34 [0.31, 0.37] kg/m(2), P = 1.9 × 10(-105)), and all participants (0.30 [0.30, 0.35] kg/m(2), P = 3.6 × 10(-107)). The BMI-increasing allele of the FTO variant showed a significant association with higher dietary protein intake (effect per allele = 0.08 [0.06, 0.10] %, P = 2.4 × 10(-16)), and relative weak associations with lower total energy intake (-6.4 [-10.1, -2.6] kcal/day, P = 0.001) and lower dietary carbohydrate intake (-0.07 [-0.11, -0.02] %, P = 0.004). The associations with protein (P = 7.5 × 10(-9)) and total energy (P = 0.002) were attenuated but remained significant after adjustment for BMI. We did not find significant interactions between the FTO variant and dietary intake of total energy, protein, carbohydrate or fat on BMI. Our findings suggest a positive association between the BMI-increasing allele of FTO variant and higher dietary protein intake and offer insight into potential link between FTO, dietary protein intake and adiposity.

Diagnostic accuracy of body mass index, body fat and waist in defining low aerobic fitness in adolescents

Objective: to assess the diagnostic accuracy of different anthropometric markers in defining low aerobic fitness among adolescents. Methods: cross-sectional study on 2,331 boys and 2,366 girls aged 10 - 18 years. Body mass index (BMI) was measured using standardized methods; body fat (BF) was assessed by bioelectrical impedance. Low aerobic fitness was assessed by the 20-meter shuttle run using the FITNESSGRAMR criteria. Waist was measured in a subsample of 1,933 boys and 1,897 girls. Overweight, obesity and excess fat were defined according to the International Obesity Task Force (IOTF) or FITNESSGRAMR criteria. Results: 38.5% of boys and 46.5% of girls were considered as unfit according to the FITNESSGRAMR criteria. In boys, the area under the ROC curve (AUC) and 95% confidence interval were 66.7 (64.1 - 69.3), 67.1 (64.5 - 69.6) and 64.6 (61.9 - 67.2) for BMI, BF and waist, respectively (P<0.02). In girls, the values were 68.3 (65.9 - 70.8), 63.8 (61.3 - 66.3) and 65.9 (63.4 - 68.4), respectively (P<0.001). In boys, the sensitivity and specificity to diagnose low fitness were 13% and 99% for obesity (IOTF); 38% and 86% for overweight + obesity (IOTF); 28% and 94% for obesity (FITNESSGRAMR) and 42% and 81% for excess fat (FITNESSGRAMR). For girls, the values were 9% and 99% for obesity (IOTF); 33% and 82% for overweight + obesity (IOTF); 22% and 94% for obesity (FITNESSGRAMR) and 26% and 90% for excess fat (FITNESSGRAMR). Conclusions: BMI, not body fat or waist, should be used to define low aerobic fitness. The IOTF BMI cut-points to define obesity have a very low screening capacity and should not be used.

Information architecture for the semantic web

L'objectiu és desenvolupar i avaluar una sèrie de components de l'arquitectura de la informació per a la web semàntica. Aquest components són genèrics i permeten als usuaris explorar conjunts de dades semàntiques sense necessitat de conèixer l'estructura ni tenir coneixements tècnics. S'ha desenvolupat seguint una metodologia de disseny centrat en l'usuari

SenSem: sentidos verbales, semántica oracional y anotación de corpus

En este artículo presentamos el desarrollo del proyecto SenSem (BFF2003-06456), que tiene como objetivo describir y representar el comportamiento léxico, sintáctico y semántico de los verbos del español. En el desarrollo de este proyecto se están construyendo dos recursos: un corpus de oraciones asociadas a su interpretación sintáctico-semántica y un léxico donde cada sentido verbal se asocia a un conjunto de ejemplos anotados del corpus.

Semantic data integration in a newspaper content management system

A newspaper content management system has to deal with a very heterogeneous information space as the experience in the Diari Segre newspaper has shown us. The greatest problem is to harmonise the different ways the involved users (journalist, archivists...) structure the newspaper information space, i.e. news, topics, headlines, etc. Our approach is based on ontology and differentiated universes of discourse (UoD). Users interact with the system and, from this interaction, integration rules are derived. These rules are based on Description Logic ontological relations for subsumption and equivalence. They relate the different UoD and produce a shared conceptualisation of the newspaper information domain.

A genetic risk score combining 32 SNPs is associated with body mass index and improves obesity prediction in people with major depressive disorder.

BACKGROUND: Obesity is strongly associated with major depressive disorder (MDD) and various other diseases. Genome-wide association studies have identified multiple risk loci robustly associated with body mass index (BMI). In this study, we aimed to investigate whether a genetic risk score (GRS) combining multiple BMI risk loci might have utility in prediction of obesity in patients with MDD. METHODS: Linear and logistic regression models were conducted to predict BMI and obesity, respectively, in three independent large case-control studies of major depression (Radiant, GSK-Munich, PsyCoLaus). The analyses were first performed in the whole sample and then separately in depressed cases and controls. An unweighted GRS was calculated by summation of the number of risk alleles. A weighted GRS was calculated as the sum of risk alleles at each locus multiplied by their effect sizes. Receiver operating characteristic (ROC) analysis was used to compare the discriminatory ability of predictors of obesity. RESULTS: In the discovery phase, a total of 2,521 participants (1,895 depressed patients and 626 controls) were included from the Radiant study. Both unweighted and weighted GRS were highly associated with BMI (P <0.001) but explained only a modest amount of variance. Adding 'traditional' risk factors to GRS significantly improved the predictive ability with the area under the curve (AUC) in the ROC analysis, increasing from 0.58 to 0.66 (95% CI, 0.62-0.68; χ(2) = 27.68; P <0.0001). Although there was no formal evidence of interaction between depression status and GRS, there was further improvement in AUC in the ROC analysis when depression status was added to the model (AUC = 0.71; 95% CI, 0.68-0.73; χ(2) = 28.64; P <0.0001). We further found that the GRS accounted for more variance of BMI in depressed patients than in healthy controls. Again, GRS discriminated obesity better in depressed patients compared to healthy controls. We later replicated these analyses in two independent samples (GSK-Munich and PsyCoLaus) and found similar results. CONCLUSIONS: A GRS proved to be a highly significant predictor of obesity in people with MDD but accounted for only modest amount of variance. Nevertheless, as more risk loci are identified, combining a GRS approach with information on non-genetic risk factors could become a useful strategy in identifying MDD patients at higher risk of developing obesity.

A Semantic wiki for quality management in software development projects

Quality management has become a strategic issue for organisations and is very valuable to produce quality software. However, quality management systems (QMS) are not easy to implement and maintain. The authors' experience shows the benefits of developing a QMS by first formalising it using semantic web ontologies and then putting them into practice through a semantic wiki. The QMS ontology that has been developed captures the core concepts of a traditional QMS and combines them with concepts coming from the MPIu'a development process model, which is geared towards obtaining usable and accessible software products. Then, the ontology semantics is directly put into play by a semantics-aware tool, the Semantic MediaWiki. The developed QMS tool is being used for 2 years by the GRIHO research group, where it has manages almost 50 software development projects taking into account the quality management issues. It has also been externally audited by a quality certification organisation. Its users are very satisfied with their daily work with the tool, which manages all the documents created during project development and also allows them to collaborate, thanks to the wiki features.

Building a usable and accessible semantic web interaction platform

Semantic Web applications take off is being slower than expected, at least with respect to “real-world” applications and users. One of the main reasons for this lack of adoption is that most Semantic Web user interfaces are still immature from the usability and accessibility points of view. This is due to the novelty of these technologies, but this also motivates the exploration of alternative interaction paradigms, different from the “traditional” Web or Desktop applications ones. Our proposal is realized in the Rhizomer platform, which explores the possibilities of the object–action interaction paradigm at the Web scale. This paradigm is well suited for heterogeneous resource spaces such as those common in the Semantic Web. Resources, described by metadata, correspond to the objects in the paradigm. Semantic web services, which are dynamically associated to these objects, correspond to the actions. The platform is being put into practice in the context of a research project in order to build an open application for media distribution based on Semantic Web technologies. Moreover, its usability and accessibility have been evaluated in this real setting and compared to similar systems.

Modulation of genetic associations with serum urate levels by body-mass-index in humans.

We tested for interactions between body mass index (BMI) and common genetic variants affecting serum urate levels, genome-wide, in up to 42569 participants. Both stratified genome-wide association (GWAS) analyses, in lean, overweight and obese individuals, and regression-type analyses in a non BMI-stratified overall sample were performed. The former did not uncover any novel locus with a major main effect, but supported modulation of effects for some known and potentially new urate loci. The latter highlighted a SNP at RBFOX3 reaching genome-wide significant level (effect size 0.014, 95% CI 0.008-0.02, Pinter= 2.6 x 10-8). Two top loci in interaction term analyses, RBFOX3 and ERO1LB-EDARADD, also displayed suggestive differences in main effect size between the lean and obese strata. All top ranking loci for urate effect differences between BMI categories were novel and most had small magnitude but opposite direction effects between strata. They include the locus RBMS1-TANK (men, Pdifflean-overweight= 4.7 x 10-8), a region that has been associated with several obesity related traits, and TSPYL5 (men, Pdifflean-overweight= 9.1 x 10-8), regulating adipocytes-produced estradiol. The top-ranking known urate loci was ABCG2, the strongest known gout risk locus, with an effect halved in obese compared to lean men (Pdifflean-obese= 2 x 10-4). Finally, pathway analysis suggested a role for N-glycan biosynthesis as a prominent urate-associated pathway in the lean stratum. These results illustrate a potentially powerful way to monitor changes occurring in obesogenic environment.

Interoperability of learning objects copyright in the LUISA semantic learning management system

Semantic Web technology is able to provide the required computational semantics for interoperability of learning resources across different Learning Management Systems (LMS) and Learning Object Repositories (LOR). The EU research project LUISA (Learning Content Management System Using Innovative Semantic Web Services Architecture) addresses the development of a reference semantic architecture for the major challenges in the search, interchange and delivery of learning objects in a service-oriented context. One of the key issues, highlighted in this paper, is Digital Rights Management (DRM) interoperability. A Semantic Web approach to copyright management has been followed, which places a Copyright Ontology as the key component for interoperability among existing DRM systems and other licensing schemes like Creative Commons. Moreover, Semantic Web tools like reasoners, rule engines and semantic queries facilitate the implementation of an interoperable copyright management component in the LUISA architecture.

Semantic Web applications: a framework for industry and business exploitation – What is needed for the adoption of the Semantic Web from the market and industry

In recent years, Semantic Web (SW) research has resulted in significant outcomes. Various industries have adopted SW technologies, while the ‘deep web’ is still pursuing the critical transformation point, in which the majority of data found on the deep web will be exploited through SW value layers. In this article we analyse the SW applications from a ‘market’ perspective. We are setting the key requirements for real-world information systems that are SW-enabled and we discuss the major difficulties for the SW uptake that has been delayed. This article contributes to the literature of SW and knowledge management providing a context for discourse towards best practices on SW-based information systems.