| 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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| 3. |
- Hjorth Larsen, Ask, et al.
(författare)
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The atomic simulation environment-a Python library for working with atoms
- 2017
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Ingår i: Journal of Physics. - : Institute of Physics Publishing (IOPP). - 0953-8984 .- 1361-648X. ; 29:27
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Forskningsöversikt (refereegranskat)abstract
- The atomic simulation environment (ASE) is a software package written in the Python programming language with the aim of setting up, steering, and analyzing atomistic simulations. In ASE, tasks are fully scripted in Python. The powerful syntax of Python combined with the NumPy array library make it possible to perform very complex simulation tasks. For example, a sequence of calculations may be performed with the use of a simple 'for-loop' construction. Calculations of energy, forces, stresses and other quantities are performed through interfaces to many external electronic structure codes or force fields using a uniform interface. On top of this calculator interface, ASE provides modules for performing many standard simulation tasks such as structure optimization, molecular dynamics, handling of constraints and performing nudged elastic band calculations.
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| 4. |
- Su, Zhan, et al.
(författare)
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Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.
- 2012
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:10
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Tidskriftsartikel (refereegranskat)abstract
- Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia, and it strongly predisposes to esophageal adenocarcinoma (EAC), a tumor with a very poor prognosis. We report the first genome-wide association study on Barrett's esophagus, comprising 1,852 UK cases and 5,172 UK controls in the discovery stage and 5,986 cases and 12,825 controls in the replication stage. Variants at two loci were associated with disease risk: chromosome 6p21, rs9257809 (Pcombined=4.09×10(-9); odds ratio (OR)=1.21, 95% confidence interval (CI)=1.13-1.28), within the major histocompatibility complex locus, and chromosome 16q24, rs9936833 (Pcombined=2.74×10(-10); OR=1.14, 95% CI=1.10-1.19), for which the closest protein-coding gene is FOXF1, which is implicated in esophageal development and structure. We found evidence that many common variants of small effect contribute to genetic susceptibility to Barrett's esophagus and that SNP alleles predisposing to obesity also increase risk for Barrett's esophagus.
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| 5. |
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| 6. |
- Bellenguez, Celine, et al.
(författare)
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Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke
- 2012
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 44:3, s. 141-328
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Tidskriftsartikel (refereegranskat)abstract
- Genetic factors have been implicated in stroke risk, but few replicated associations have been reported. We conducted a genome-wide association study (GWAS) for ischemic stroke and its subtypes in 3,548 affected individuals and 5,972 controls, all of European ancestry. Replication of potential signals was performed in 5,859 affected individuals and 6,281 controls. We replicated previous associations for cardioembolic stroke near PITX2 and ZFHX3 and for large vessel stroke at a 9p21 locus. We identified a new association for large vessel stroke within HDAC9 (encoding histone deacetylase 9) on chromosome 7p21.1 (including further replication in an additional 735 affected individuals and 28,583 controls) (rs11984041; combined P = 1.87 x 10(-11); odds ratio (OR) = 1.42, 95% confidence interval (CI) = 1.28-1.57). All four loci exhibited evidence for heterogeneity of effect across the stroke subtypes, with some and possibly all affecting risk for only one subtype. This suggests distinct genetic architectures for different stroke subtypes.
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| 7. |
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| 8. |
- Colonna, Liane, et al.
(författare)
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Community Reference Meeting: Challenges and Opportunities of Regulating AI : The Participation Paradox in the Politics of AI
- 2022
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Main Findings:AI systems are increasingly being used to shift decisions made by humans over to automated systems, potentially limiting the space for democratic participation. The risk that AI erodes democracy is exacerbated where most people are excluded from the ownership and production of AI technologies that will impact them.AI learns through datasets but, very often, that data excludes key parts of the population. Where marginalized groups are considered, datasets often contain derogatory terms, or exclude explanatory contextual information, that is hard to accurately categorise in a format that AI can process. Resulting biases within AI design raise concerns as to the quality and representativeness of AI-based decisions and their impact on society.There is very little two-way communication between the developers and users of AI-technologies such that the latter function only as personal data providers. Being largely excluded from the development of AI’s role in human decision-making, everyday individuals may feel more marginalized and disinterested in building a healthy and sustainable society.Yet, AI’s capacity for seeing patterns in big data provides new ways to reach parts of the population excluded from traditional policymaking. It can serve to identify structural discrimination and include information from those otherwise ignored in important decisions. AI could enhance public participation by both providing decision-makers with better data and helping to communicate complex decisions – and their consequences – to wider parts of the population.
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| 9. |
- Dalingwater, Louise, et al.
(författare)
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Policies on marginalized migrant communities during Covid-19 : migration management prioritized over population health
- 2023
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Ingår i: Critical Policy Studies. - : Routledge. - 1946-0171 .- 1946-018X. ; 17:2, s. 316-336
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Tidskriftsartikel (refereegranskat)abstract
- Migration management policies in many states have marginalized significant numbers of individuals on the basis of their precarious residency status, negatively impacting their health. This article looks at how three European states with high levels of contagion - France, Sweden, and the United Kingdom - adapted their migration management policies to the changed circumstances during the Covid 19 pandemic in which there was new pressure for prioritizing population health over other concerns. The analysis compares globally-recognized 'best practices' for migrant health during the pandemic with policies adopted by France, Sweden, and the UK - selected as prominent migrant-hosting states and that experienced high rates of Covid-19. The article draws on supplementary evidence through interviews with civil society organizations working directly with migrants living on the margins of society - what are termed here 'marginalized migrants' (MMs). As the article concludes, the national policies often fell below international 'best practices' such that migration management was often prioritized over population health despite the crisis. The perspective developed in this paper is important for understanding where migration control policies have been prioritized over public health.
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| 10. |
- Dalingwater, Louise, et al.
(författare)
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The well-being of marginalized migrants in Europe duing the Covid-19 epidemic: evidence from France, Sweden, and the UK
- 2022
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Ingår i: The Unequal Costs of Covid-19 on Well-being in Europe. - Cham : Springer Nature. ; , s. 177-202
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Bokkapitel (refereegranskat)abstract
- International guidance set forth recommendations to protect marginalized migrant populations during Covid-19 given the significant inequalities in terms of social and economic well-being reported in the literature. However, a cross-country study of three European countries with high rates of Covid-19 infections and deaths has shown that migrant well-being has significantly decreased since the outbreak of Covid-19 in Europe from March 2020 and that policy measures to help those marginalized populations have been insufficient. The conclusions on migrant well-being during Covid-19 draw on interviews with prominent civil society organizations in all three countries that work specifically on migrant health and welfare. All interviews were semi-structured and conducted between October and November 2020. The analysis mainly focuses on objective/material measures of well-being related to access to health care, information on prevention of infection, housing and exclusion by host population.
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