Association of the PHACTR1/EDN1 genetic locus with spontaneous coronary artery dissection

Background: Spontaneous coronary artery dissection (SCAD) is an increasingly recognized cause of acute coronary syndromes (ACS) afflicting predominantly younger to middle-aged women. Observational studies have reported a high prevalence of extracoronary vascular anomalies, especially fibromuscular dysplasia (FMD) and a low prevalence of coincidental cases of atherosclerosis. PHACTR1/EDN1 is a genetic risk locus for several vascular diseases, including FMD and coronary artery disease, with the putative causal noncoding variant at the rs9349379 locus acting as a potential enhancer for the endothelin-1 (EDN1) gene. Objectives: This study sought to test the association between the rs9349379 genotype and SCAD. Methods: Results from case control studies from France, United Kingdom, United States, and Australia were analyzed to test the association with SCAD risk, including age at first event, pregnancy-associated SCAD (P-SCAD), and recurrent SCAD. Results: The previously reported risk allele for FMD (rs9349379-A) was associated with a higher risk of SCAD in all studies. In a meta-analysis of 1,055 SCAD patients and 7,190 controls, the odds ratio (OR) was 1.67 (95% confidence interval [CI]: 1.50 to 1.86) per copy of rs9349379-A. In a subset of 491 SCAD patients, the OR estimate was found to be higher for the association with SCAD in patients without FMD (OR: 1.89; 95% CI: 1.53 to 2.33) than in SCAD cases with FMD (OR: 1.60; 95% CI: 1.28 to 1.99). There was no effect of genotype on age at first event, P-SCAD, or recurrence. Conclusions: The first genetic risk factor for SCAD was identified in the largest study conducted to date for this condition. This genetic link may contribute to the clinical overlap between SCAD and FMD

Cross: an OWL wrapper for reasoning with relational databases

International audienceOne of the challenges of the Semantic Web is to integrate the huge amount of information already available on the standard Web, usually stored in relational databases. In this paper, we propose a formalization of a logic model of relational databases, and a transformation of that model into OWL, a Semantic Web language. This transformation is implemented in Cross, as an open-source prototype. We prove a rela- tion between the notion of legal database state and the consistency of the corresponding OWL knowledge base. We then show how that transformation can prove useful to enhance databases, and integrate them in the Semantic Web

Wrapping And Integrating Heterogeneous Databases With OWL

International audienceThe Web-based information systems have been much developed since the Internet is known as a global accessible open network. The Semantic Web vision aims at providing supplementary meaningful information (meta-data) about Web resources in order to facilitate automatic processing by machines and interoperability between different systems. In this paper, we present an approach for the integration of heterogeneous databases in the Semantic Web context using semantic mediation approach based on ontology. The standard OWL language is used here as the ontology description language to formalize ontologies of local data resources and to describe their semantic correspondences in order to construct an integrated information system. We propose an architecture adopting mediator-wrapper approach for a mediation based on OWL. Some illustrations of database wrapping and semantic mediation using OWL are also presented in the paper

Wrapping And Integrating Heterogeneous Databases With OWL

International audienceThe Web-based information systems have been much developed since the Internet is known as a global accessible open network. The Semantic Web vision aims at providing supplementary meaningful information (meta-data) about Web resources in order to facilitate automatic processing by machines and interoperability between different systems. In this paper, we present an approach for the integration of heterogeneous databases in the Semantic Web context using semantic mediation approach based on ontology. The standard OWL language is used here as the ontology description language to formalize ontologies of local data resources and to describe their semantic correspondences in order to construct an integrated information system. We propose an architecture adopting mediator-wrapper approach for a mediation based on OWL. Some illustrations of database wrapping and semantic mediation using OWL are also presented in the paper

Exposing relational data on the Semantic Web With Cross

With the advent of the World Wide Web, a growing amount of heterogeneous data sources is becoming available, thus requiring wrapping mechanisms for a unified access by end-users or applications. OWL, an ontology language for the Web, is a good candidate for coping with structural and semantic heterogeneity between data sources. For this purpose, we propose CROSS, an open-source prototype which aims at exposing relational databases and additional knowledge about them in OWL. The key feature of CROSS is that it follows a declarative approach since it relies on the target language, OWL. In this approach, the relational structure is first converted into OWL which can then be employed by the user to declare additional OWL statements about the database. The conversiio