| 1. |
- Sawcer, Stephen, et al.
(författare)
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Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
- 2011
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 476:7359, s. 214-219
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Tidskriftsartikel (refereegranskat)abstract
- Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis.
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| 2. |
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Conceptual Modeling : Proceedings
- 2015
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Proceedings (redaktörskap) (refereegranskat)abstract
- This book constitutes the refereed proceedings of the 34th International Conference on Conceptual Modeling, ER 2015, held in Stockholm, Sweden, in October 2015. The 26 full and 19 short papers presented were carefully reviewed and selected from 131 submissions. The papers are organized in topical sections on business process and goal models, ontology-based models and ontology patterns, constraints, normalization, interoperability and integration, collaborative modeling, variability and uncertainty modeling, modeling and visualization of user generated content, schema discovery and evolution, process and text mining, domain-based modeling, data models and semantics, and applications of conceptual modeling.
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| 3. |
- Johannesson, Paul, et al.
(författare)
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Special issue on conceptual modeling – 34th International Conference on Conceptual Modeling (ER 2015)
- 2017
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Ingår i: Data & Knowledge Engineering. - : Elsevier BV. - 0169-023X .- 1872-6933. ; 107, s. 1-2
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- We are happy to bring you this special issue of Data and Knowledge Engineering based on the 34th International Conference on Conceptual Modeling (ER 2015), which was held on 19–22 October 2015 in Stockholm, Sweden. Since 1979, when its first edition was held in Los Angeles, the ER conference has been the flagship conference series and the premier international meeting space for the Conceptual Modeling community. In 2015, the conference attracted 131 submissions from all parts of the world, 41 of which were accepted as long and short papers. The technical program also included four keynotes, nine workshops, five tutorials, a Ph.D. colloquium, a demo session, and a panel session. The conference covered a broad range of areas in conceptual modeling, from ontology-based modeling and data model semantics to conceptual modeling for big data and applications of modeling in health and social care.
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