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2. |
- Barth, Julia M.I., et al.
(author)
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Genome architecture enables local adaptation of Atlantic cod despite high connectivity
- 2017
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In: Molecular Ecology. - : Wiley. - 0962-1083 .- 1365-294X. ; 26:17, s. 4452-4466
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Journal article (peer-reviewed)abstract
- Adaptation to local conditions is a fundamental process in evolution; however, mechanisms maintaining local adaptation despite high gene flow are still poorly understood. Marine ecosystems provide a wide array of diverse habitats that frequently promote ecological adaptation even in species characterized by strong levels of gene flow. As one example, populations of the marine fish Atlantic cod (Gadus morhua) are highly connected due to immense dispersal capabilities but nevertheless show local adaptation in several key traits. By combining population genomic analyses based on 12K single nucleotide polymorphisms with larval dispersal patterns inferred using a biophysical ocean model, we show that Atlantic cod individuals residing in sheltered estuarine habitats of Scandinavian fjords mainly belong to offshore oceanic populations with considerable connectivity between these diverse ecosystems. Nevertheless, we also find evidence for discrete fjord populations that are genetically differentiated from offshore populations, indicative of local adaptation, the degree of which appears to be influenced by connectivity. Analyses of the genomic architecture reveal a significant overrepresentation of a large ~5 Mb chromosomal rearrangement in fjord cod, previously proposed to comprise genes critical for the survival at low salinities. This suggests that despite considerable connectivity with offshore populations, local adaptation to fjord environments may be enabled by suppression of recombination in the rearranged region. Our study provides new insights into the potential of local adaptation in high gene flow species within fine geographical scales and highlights the importance of genome architecture in analyses of ecological adaptation.
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3. |
- Nordmark, Gunnel, et al.
(author)
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Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome
- 2011
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In: Genes and Immunity. - : Springer Science and Business Media LLC. - 1466-4879 .- 1476-5470. ; 12:2, s. 100-109
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Journal article (peer-reviewed)abstract
- We performed a candidate gene association study in 540 patients with primary Sjögren's Syndrome (SS) from Sweden (n=344) and Norway (n=196) and 532 controls (n=319 Swedish, n=213 Norwegian). A total of 1139 single-nucleotide polymorphisms (SNPs) in 84 genes were analyzed. In the meta-analysis of the Swedish and Norwegian cohorts, we found high signals for association between primary SS and SNPs in three gene loci, not previously associated with primary SS. These are the early B-cell factor 1 (EBF1) gene, P=9.9 × 10−5, OR 1.68, the family with sequence similarity 167 member A–B-lymphoid tyrosine kinase (FAM167A–BLK) locus, P=4.7 × 10−4, OR 1.37 and the tumor necrosis factor superfamily (TNFSF4=Ox40L) gene, P=7.4 × 10−4, OR 1.34. We also confirmed the association between primary SS and the IRF5/TNPO3 locus and the STAT4 gene. We found no association between the SNPs in these five genes and the presence of anti-SSA/anti-SSB antibodies. EBF1, BLK and TNFSF4 are all involved in B-cell differentiation and activation, and we conclude that polymorphisms in several susceptibility genes in the immune system contribute to the pathogenesis of primary SS.
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5. |
- Airoldi, L., et al.
(author)
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An ecological perspective on the deployment and design of low-crested and other hard coastal defence structures
- 2005
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In: Coastal Engineering. - : Elsevier BV. - 0378-3839. ; 52:10-11, s. 1073-1087
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Journal article (peer-reviewed)abstract
- Coastal areas play a crucial role in the economical, social and political development of most countries; they support diverse and productive coastal ecosystems that provide valuable goods and services. Globally flooding and coastal erosion represent serious threats along many coastlines, and will become more serious as a consequence of human-induced changes and accelerated sea-level rise. Over the past century, hard coastal defence structures have become ubiquitous features of coastal landscapes as a response to these threats. The proliferation of defence works can affect over half of the shoreline in some regions and results in dramatic changes to the coastal environment. Surprisingly little attention has been paid to the ecological consequences of coastal defence. Results from the DELOS (Environmental Design of Low Crested Coastal Defence Structures, EVK3-CT-2000-00041) project indicate that the construction of coastal defence structures will affect coastal ecosystems. The consequences can be seen on a local scale, as disruption of surrounding soft-bottom environments and introduction of new artificial hard-bottom habitats, with consequent changes to the native assemblages of the areas. Proliferation of coastal defence structures can also have critical impacts on regional species diversity, removing isolating barriers, favouring the spread of non-native species and increasing habitat heterogeneity. Knowledge of the environmental context in which coastal defence structures are placed is fundamental to an effective management of these structures as, while there are some general consequences of such construction, many effects are site specific. Advice is provided to meet specific management goals, which include mitigating specific impacts on the environment, such as minimising changes to surrounding sediments, spread of exotic species or growth of nuisance species, and/or enhancing specific natural resources, for example enhancing fish recruitment or promoting diverse assemblages for eco-tourism. The DELOS project points out that the downstream effects of defence structures on coastal processes and regional-scale impacts on biodiversity necessitate planning and management at a regional (large coastline) scale. To effectively understand and manage coastal defences, environmental management goals must be clearly stated and incorporated into the planning, construction, and monitoring stages. (c) 2005 Elsevier B.V. All rights reserved.
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6. |
- Arnqvist, Goran, et al.
(author)
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Falsk marknadsföring om hållbart skogsbruk
- 2022
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In: Svenska Dagbladet Debatt. - 1101-2412.
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Journal article (pop. science, debate, etc.)abstract
- Dagens svenska skogsbruk är inte ekologiskt hållbart. Att saluföra det som hållbart är därför – för att tala klarspråk – falsk marknadsföring, skriver forskare.
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7. |
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8. |
- Corell, Hanna, 1977, et al.
(author)
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Depth distribution of larvae critically affects their dispersal and the efficiency of marine protected areas
- 2012
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In: Marine Ecology Progress Series. - : Inter-Research Science Center. - 0171-8630 .- 1616-1599. ; 467, s. 29-46
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Journal article (peer-reviewed)abstract
- This study aims to improve estimates of dispersal by including information on larval traits, and in particular to explore how larval depth distribution affects connectivity and MPA (marine protected area) functionality in the Baltic Sea. A field survey showed that both invertebrates and fish differed in their larval depth distribution, ranging from surface waters to >100 m. A biophysical model of larval dispersal in the Baltic Sea showed that decreased depth distribution increased average dispersal distance 2.5-fold, decreased coastal retention and local recruitment, and substantially increased connectivity. Together with pelagic larval duration (PLD), depth distribution explained 80% of total variation in dispersal distance, whereas spawning season, and geographic and annual variations in circulation had only marginal effects. Median dispersal distances varied between 8 and 46 km, with 10% of simulated trajectories dispersing 30 to 160 km depending on drift depth and PLD. In the Baltic Sea, the majority of shallow Natura 2000 MPAs are <8 km in diameter. In the present study, only 1 of the 11 assessed larval taxa would have a recruitment >10% within MPAs of this size. Connectivity between MPAs was expected to be low for most larval trait combinations. Our simulations and the empirical data suggest that the MPA size within the Natura 2000 system is considerably below what is required for local recruitment of most sessile invertebrates and sedentary fish. Future designs of MPA networks would benefit from spatially explicit biophysical models that consider dispersal and connectivity for complex circulation patterns and informed larval traits.
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9. |
- Corell, Hanna, 1977-, et al.
(author)
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Larval depth distribution critically affects dispersal and the efficiency of marine protected areas
-
In: Marine Ecology Progress Series. - 0171-8630 .- 1616-1599.
-
Journal article (peer-reviewed)abstract
- This study aims to improve estimates of dispersal by including information on larval traits, and in particular to explore how larval depth distribution affects connectivity and MPA functionality in the Baltic Sea. A field survey showed that both invertebrates and fish differed in their larval depth distribution ranging from surface waters to more than 100 m. A biophysical model of larval dispersal in the Baltic Sea showed that decreased depthdistribution increased average dispersal distance 2.5 times, decreased coastal retention and local recruitment, and increased connectivity substantially. Together with pelagic larval duration (PLD), depth distribution explained 80% of total variation in dispersal distance, whereas spawning season, geographic and annual variations in circulation had only marginal effects. Median dispersal distances varied between 8 and 46 km, with 10% of simulated trajectories dispersing beyond 30-160 km depending on drift depth and PLD. In the Baltic Sea, the majority of shallow Natura 2000 MPAs are smaller than 8 km. In the present study, only one of the 11 assessed larval taxa would have a local recruitment >10% within MPAs of this size. Connectivity between MPAs was expected to be low for most larval trait combinations. Our simulations and the empirical data suggest that the MPA size within the Natura2000 system is considerably below what is required for local recruitment of most sessile invertebrates and sedentary fish. Future designs of MPA networks would benefit from spatially explicit biophysical models that consider dispersal and connectivity for complex circulation patterns and informed larval traits.
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10. |
- Dahlström, Mia, et al.
(author)
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Surface wettability as a determinant in the settlement of the barnacle Balanus Improvisus (DARWIN)
- 2004
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In: Journal of Experimental Marine Biology and Ecology. - : Elsevier BV. - 0022-0981. ; 305:2, s. 223-232
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Journal article (peer-reviewed)abstract
- Several studies have shown that the initial surface wettability, is of importance in the settlement of macrofouling larvae such as barnacles, bryozoans and hydroids in the field as well as in laboratory assays. In this study we present results from laboratory assays using hydrophilic and hydrophobic polystyrene (PS) and cyprid larvae of Balanus improvisus (Darwin). The results obtained differ markedly from those reported for the barnacle Balanus amphitrite (Darwin), where a high surface wettability seemed to be preferred for settlement. Our results show that a surface with intermediary wettability (hydrophilic PS) reduced settlement by 38% as compared to surfaces of low wettability (hydrophobic PS) during an 8-day period. During the experiment, the wettability in the hydrophilic PS dishes was not significantly changed as measured by advancing contact angle with mQ water. Over an 8-day period wettability of the hydrophobic PS dishes approached that of the hydrophilic PS surfaces. We further conducted experiments with highly hydrophilic and highly hydrophobic methylsilane-treated glass surfaces with known chemistry. In this experiment, the settlement of cyprid larvae was completely inhibited by the high wettability surfaces. Contact angle measurements revealed that the wettability during the length of the experiment of the hydrophilic glass surfaces was not significantly altered. We conclude by these experiments that even an intermediate wettability can significantly affect the overall settlement success of the barnacle B. improvisus. The mechanism by which the settlement is impeded might be biologically mediated through the recognition by cyprid larvae of the molecular composition of the surface when the cyprid reverts to the settlement phase, i.e. when swimming behaviour is abandoned in favour of surface exploration, or it is mediated by physicochemical forces acting between the surface and the larval body or the larval antennules. (C) 2004 Published by Elsevier B.V.
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11. |
- Glimelius, Bengt, et al.
(author)
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U-CAN : a prospective longitudinal collection of biomaterials and clinical information from adult cancer patients in Sweden.
- 2018
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In: Acta Oncologica. - : Taylor & Francis. - 0284-186X .- 1651-226X. ; 57:2, s. 187-194
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Journal article (peer-reviewed)abstract
- Background: Progress in cancer biomarker discovery is dependent on access to high-quality biological materials and high-resolution clinical data from the same cases. To overcome current limitations, a systematic prospective longitudinal sampling of multidisciplinary clinical data, blood and tissue from cancer patients was therefore initiated in 2010 by Uppsala and Umeå Universities and involving their corresponding University Hospitals, which are referral centers for one third of the Swedish population.Material and Methods: Patients with cancer of selected types who are treated at one of the participating hospitals are eligible for inclusion. The healthcare-integrated sampling scheme encompasses clinical data, questionnaires, blood, fresh frozen and formalin-fixed paraffin-embedded tissue specimens, diagnostic slides and radiology bioimaging data.Results: In this ongoing effort, 12,265 patients with brain tumors, breast cancers, colorectal cancers, gynecological cancers, hematological malignancies, lung cancers, neuroendocrine tumors or prostate cancers have been included until the end of 2016. From the 6914 patients included during the first five years, 98% were sampled for blood at diagnosis, 83% had paraffin-embedded and 58% had fresh frozen tissues collected. For Uppsala County, 55% of all cancer patients were included in the cohort.Conclusions: Close collaboration between participating hospitals and universities enabled prospective, longitudinal biobanking of blood and tissues and collection of multidisciplinary clinical data from cancer patients in the U-CAN cohort. Here, we summarize the first five years of operations, present U-CAN as a highly valuable cohort that will contribute to enhanced cancer research and describe the procedures to access samples and data.
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13. |
- Jahnke, Marlene, et al.
(author)
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Integrating genetics, biophysical, and demographic insights identifies critical sites for seagrass conservation
- 2020
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In: Ecological Applications. - : Wiley. - 1051-0761 .- 1939-5582. ; 30:6
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Journal article (peer-reviewed)abstract
- The eelgrass Zostera marina is an important foundation species of coastal areas in the Northern Hemisphere, but is continuing to decline, despite management actions. The development of new management tools is therefore urgent in order to prioritize limited resources for protecting meadows most vulnerable to local extinctions and identifying most valuable present and historic meadows to protect and restore, respectively. We assessed 377 eelgrass meadows along the complex coastlines of two fjord regions on the Swedish west coast-one is currently healthy and the other is substantially degraded. Shoot dispersal for all meadows was assessed with Lagrangian biophysical modeling (scale: 100-1,000 m) and used for barrier analysis and clustering; a subset (n = 22) was also assessed with population genetic methods (20 microsatellites) including diversity, structure, and network connectivity. Both approaches were in very good agreement, resulting in seven subpopulation groupings or management units (MUs). The MUs correspond to a spatial scale appropriate for coastal management of "waterbodies" used in the European Water Framework Directive. Adding demographic modeling based on the genetic and biophysical data as a third approach, we are able to assess past, present, and future metapopulation dynamics to identify especially vulnerable and valuable meadows. In a further application, we show how the biophysical approach, using eigenvalue perturbation theory (EPT) and distribution records from the 1980s, can be used to identify lost meadows where restoration would best benefit the present metapopulation. The combination of methods, presented here as a toolbox, allows the assessment of different temporal and spatial scales at the same time, as well as ranking of specific meadows according to key genetic, demographic and ecological metrics. It could be applied to any species or region, and we exemplify its versatility as a management guide for eelgrass along the Swedish west coast.
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14. |
- Jahnke, Marlene, et al.
(author)
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Seascape genetics and biophysical connectivity modelling support conservation of the seagrass Zostera marina in the Skagerrak-Kattegat region of the eastern North Sea
- 2018
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In: Evolutionary Applications. - : Wiley. - 1752-4563 .- 1752-4571. ; 11:5, s. 645-661
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Journal article (peer-reviewed)abstract
- Maintaining and enabling evolutionary processes within meta-populations are critical to resistance, resilience and adaptive potential. Knowledge about which populations act as sources or sinks, and the direction of gene flow, can help to focus conservation efforts more effectively and forecast how populations might respond to future anthropogenic and environmental pressures. As a foundation species and habitat provider, Zostera marina (eelgrass) is of critical importance to ecosystem functions including fisheries. Here, we estimate connectivity of Z.marina in the Skagerrak-Kattegat region of the North Sea based on genetic and biophysical modelling. Genetic diversity, population structure and migration were analysed at 23 locations using 20 microsatellite loci and a suite of analytical approaches. Oceanographic connectivity was analysed using Lagrangian dispersal simulations based on contemporary and historical distribution data dating back to the late 19th century. Population clusters, barriers and networks of connectivity were found to be very similar based on either genetic or oceanographic analyses. A single-generation model of dispersal was not realistic, whereas multigeneration models that integrate stepping-stone dispersal and extant and historic distribution data were able to capture and model genetic connectivity patterns well. Passive rafting of flowering shoots along oceanographic currents is the main driver of gene flow at this spatial-temporal scale, and extant genetic connectivity strongly reflects the ghost of dispersal past sensu Benzie, . The identification of distinct clusters, connectivity hotspots and areas where connectivity has become limited over the last century is critical information for spatial management, conservation and restoration of eelgrass.
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15. |
- Jahnke, Marlene, et al.
(author)
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Seascape genomics identify adaptive barriers correlated to tidal amplitude in the shore crab Carcinus maenas
- 2022
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In: Molecular Ecology. - : Wiley. - 0962-1083 .- 1365-294X. ; 31:7, s. 1980-94
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Journal article (peer-reviewed)abstract
- Most marine invertebrates disperse during a planktonic larval stage that may drift for weeks with ocean currents. A challenge for larvae of coastal species is to return to coastal nursery habitats. Shore crab (Carcinus maenas L.) larvae are known to show tidal rhythmicity in vertical migration in tidal areas and circadian rhythmicity in micro-tidal areas, which seems to increase successful coastal settlement. We studied genome-wide differentiation based on 24,000 SNPs of 12 native populations of shore crab sampled from a large tidal amplitude gradient from macro-tidal (ca. 8 m) to micro-tidal (ca. 0.2 m). Dispersal and recruitment success of larvae was assessed with a Lagrangian biophysical model, which showed a strong effect of larval behavior on long-term connectivity, and dispersal barriers that partly coincided with different tidal environments. The genetic population structure showed a subdivision of the samples into three clusters, which represent micro-, meso- and macro-tidal areas. The genetic differentiation was mostly driven by 0.5% outlier loci, which showed strong allelic clines located at the limits between the three tidal areas. Demographic modelling suggested that the two genetic barriers have different origins. Differential gene expression of two clock genes (cyc and pdp1) further highlighted phenotypic differences among genetic clusters that are potentially linked to the differences in larval behaviour. Taken together, our seascape genomic study suggest that tidal regime acts as a strong selection force on shore crab population structure, consistent with larval behaviour affecting dispersal and recruitment success.
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16. |
- Jonsson, Annie, et al.
(author)
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Utvärdering av Hornborgasjöns restaurering : måluppfyllelse och effekter på biologisk mångfald med fokus på vegetation och fågelfauna
- 2017
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Reports (other academic/artistic)abstract
- Hornborgasjön räknas idag som en av Sveriges rikaste fågelsjöar och är internationellt utpekad som en av Sveriges värdefullaste våtmarker. Sjön har stor betydelse som både rast- och häckplats för en mängd fågelarter. Området är också av stort intresse för friluftslivet och som ett levande kulturlandskap. Under de senaste 150 åren har Hornborgasjön genomgått stora förändringar. En serie av sjösänkningar under 1800 och 1900-talen ledde till kraftig igenväxning och följdes av ett storskaligt restaureringsprojekt i senare tid. Syftet med Hornborgasjöns restaurering var att säkerställa Hornborgasjöns framtid som fågelsjö. Restaureringen är ett av Sveriges största naturvårdsprojekt. I denna rapport har vi utvärderat hur Hornborgasjöns restaurering påverkat vegetation och fågelfauna. Syftet var att analysera om och till vilken grad de biologiska målen med restaureringen uppnåtts.För att utvärdera måluppfyllelsen har vi i första hand jämfört olika naturtypers utbredning mellan åren 1905 och 2010 samt förändringar i fågelfaunan under flera tidsperioder. Analyser av vegetationskartor visar att vass- och buskområden kraftigt reducerats och att en stor öppen vattenspegel och omgivande mader återskapats. Våtmarksfåglarnas numerär har generellt sett återhämtat sig från igenväxningsperioden och är för vissa arter till och med större än vid förra sekelskiftet. För vissa naturtyper och fågelarter, som till exempel vassområden och häckande vadare, är dagens situation dock inte i linje med målen. Det står ändå klart att det övergripande målet och många av de mer specifika delmålen har uppfyllts så att Hornborgasjön idag är en levande våtmark med stort antal häckande och rastande fågelarter.I analyser av fågeldata från senare tid finns indikationer på negativa trender som man behöver vara observant på för att för framtiden säkra en biologiskt rik Hornborgasjö. En utmaning för denna utvärdering har dock varit bristen på högkvalitativa och jämförbara data att basera analyserna på. Vi belyser därför vikten av att ha ett fungerande övervakningssystem som kontinuerligt följer upp statusen i ekosystemet.
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17. |
- Jonsson, B. G., et al.
(author)
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Skogspolitiken hotar biologiska mångfalden
- 2008
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In: Dagens Nyheter. ; 14 april
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Journal article (other academic/artistic)abstract
- Ledande svenska forskare varnar för att det nationella naturarvet äventyras: Vi skäms över våra beslutsfattares likgiltighet för miljön. Den svenska skogen har förvandlats till en jättelik odlingsyta. Där förr otaliga arter levde samman i harmoni dominerar numera helt gran, tall och inplanterade främmande trädslag. Denna skogsodling utgör ett hot mot den biologiska mångfalden vilket strider mot riksdagens miljökvalitetsmål. Den svenska skogspolitiken vilar officiellt på att produktion av skogsråvara och miljö är likvärdiga mål. Men i praktiken har produktionen satts i första rummet. Bortåt 2 000 skogslevande arters överlevnad hotas på grund av den förda politiken. Vi är djupt oroade och skäms över att det rika Sverige inte arbetar effektivt för att nå nationella och internationella miljömål. Det skriver 14 ledande forskare i bland annat växtekologi, ekologisk zoologi och botanik.
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22. |
- Jonsson, Per R., 1957, et al.
(author)
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How to select networks of marine protected areas for multiple species with different dispersal strategies
- 2016
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In: Diversity and Distributions: A journal of biological invasions and biodiversity. - : Wiley. - 1366-9516 .- 1472-4642. ; 22:2, s. 161-173
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Journal article (peer-reviewed)abstract
- Aim To develop and test theory based on connectivity to identify optimal networks of marine protected areas (MPAs) that protect multiple species with a range of dispersal strategies. Location The eastern North Sea in the Atlantic Ocean. Methods Theory of finding optimal MPA network is based on eigenvalue perturbation theory applied to population connectivity. Previous theory is here extended to the persistence of multiple species by solving a maximization problem with constraints, which identifies an optimal consensus network of MPAs. The theory is applied to two test cases within a 120,000km2 area in the North Sea where connectivity was estimated with a biophysical model. In a realistic case, the theory is applied to the protection of rocky-reef habitats, where the biophysical model is parameterized with realistic dispersal traits for key species. Theoretical predictions of optimal networks were validated with a simple metapopulation model. Persistence of optimal consensus MPA networks is compared to randomly selected networks as well as to the existing MPA network. Results Despite few overlapping MPA sites for the optimal networks based on single dispersal strategies, the consensus network for multiple dispersal strategies performed well for 3 of 4 contrasting strategies even without user-defined constraints. In the test with five realistic dispersal strategies, representing a community on threatened rocky reefs, the consensus network performed equally well compared to solutions for single species. Different dispersal strategies were also protected jointly across the MPA network (93% of sites), in contrast to simulations of the existing MPA network (2% of sites). Consensus networks based on connectivity were significantly more efficient compared to existing MPAs. Main conclusions Our findings suggest that the new theoretic framework can identify a consensus MPA network that protects a whole community containing species with multiple dispersal strategies.
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23. |
- Jonsson, Per R., 1957, et al.
(author)
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Interactions between wave action and grazing control the distribution of intertidal macroalgae
- 2006
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In: Ecology. - 0012-9658 .- 1939-9170. ; 87:5, s. 1169-1178
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Journal article (peer-reviewed)abstract
- Canopy-forming macroalgae are key species on temperate rocky shores. However, there is a lack of understanding of how the relative balance of physical and biological factors controls the establishment and persistence of intertidal macroalgae. Here we present an integrated study of the relative importance of wave-induced forces and grazing for the recruitment and Survival of the canopy-forming intertidal macroalgae Fucus vesiculosus and F. spiralis. A set of overtopped breakwaters provided a nearly unconfounded gradient in wave exposure between seaward and landward sides. A biomechanical analysis was performed based on empirical measurements of maximum drag forces in breaking waves, a model of long-term maximum wave height, and the breaking stress of Fucus spp. The estimated maximum flow speed (7-8 m/s) on the seaward side of the breakwaters was predicted to completely dislodge or prune Fucus spp. larger than similar to 10 cm, while dislodgment was highly unlikely on the landward side for all sizes. Experimental transplantation of Fucus spp. supported the biomechanical analysis but also suggested that mechanical abrasion may further limit survival in wave-exposed locations. Experimental removal of the limpet Patella vulgata, which was the principal grazer at this site, resulted in recruitment of Fucus spp. on the seaward side. We present a model of limpet grazing that indicates that limpet densities > 5-20 individuals/m(2) provide a proximate mechanism preventing establishment of Fucus spp., whereas wave action > 2 m/s reduces persistence through dislodgment and battering. In a conceptual model we further propose that recruitment and survival of juvenile Fucus spp. are controlled indirectly by wave exposure through higher limpet densities at exposed locations. This model predicts that climate change, and in particular an increased frequency of storm events in the northeast Atlantic, will restrict fucoids to more sheltered locations.
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24. |
- Jonsson, Per R., 1957, et al.
(author)
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Recent decline in cod stocks in the North Sea - Skagerrak - Kattegat shifts the sources of larval supply
- 2016
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In: Fisheries Oceanography. - : Wiley. - 1054-6006 .- 1365-2419. ; 25:3, s. 210-228
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Journal article (peer-reviewed)abstract
- Cod stocks in the North Sea, including the Kattegat and the Skagerrak, have declined dramatically since the 1970s. Occasionally there is a high recruitment of juveniles in Kattegat/Skagerrak, without leading to the rebuilding of adult cod stocks despite reduced fishing mortality. In a biophysical model of egg and larval drift, we examined the potential importance of extant and historical spawning grounds for recruitment of cod in the Kattegat/Skagerrak seas using data of spawning stock biomass from the 1970s and from today’s reduced stocks. The results suggest that Kattegat in the 1970s relied on largely locally retained (83%) larvae with little annual variation in recruitment. Kattegat also provided a substantial proportion of larvae recruiting in Swedish Skagerrak (72%). This is in contrast to pre-sent conditions where the Kattegat spawning stock has been reduced by 94%, and Kattegat only provides 34% of locally retained larvae and 30% to Swedish Skagerrak. Instead, the protected area in the Oresund and the Belt Sea are expected today to provide most larvae recruiting in Kattegat. Also, the inflow of larvae from the North Sea to Skagerrak and Kattegat can be significant although highly variable between years, with a positive correlation to the North-Atlantic Oscillation index (NAO). The rebuilding of healthy spawning areas in the Kattegat may be key for restoring local cod stocks in both Kattegat and along the Skagerrak coast. This poses a management challenge if cod with local ‘Kattegat’ adaptations, e.g., in terms of egg density and migration patterns, are lost or reduced to non-resilient densities.
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25. |
- Jonsson, Robert
(author)
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Organisationstillblivelse och identitet : en studie av ÖstSam
- 2002
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Licentiate thesis (other academic/artistic)abstract
- "Organisationstillblivelse och identitet - en studie av ÖstSam" är en licentiatavhandling som syftar till att bidra med kunskaper om organisationers tillblivelse i termer av identitet. A v handlingen bygger på en studie av framväxten av organisationen ÖstSam. I tid sträcker sig studien från slutet av 1996 till början av år 2000. Från hösten 1998 har framväxten följts via intervjuer, observationer och dokument.Studien beskriver framväxten av ÖstSam. Vidare tolkas framväxten utifrån identitet som perspektiv. Detta görs genom att vad ÖstSam utvecklats till i termer av identitet presenteras. Hur ÖstSams identitet växt fram beskrivs också. Utifrån fallet ÖstSam och med hjälp av teorier som presenteras, diskuteras hur organisationers tillblivelse kan förstås i termer av identitet. Diskussionen mynnar framförallt ut i att grundarnas intentioner utgör underlag för innehållet i identiteten, vilket har visat sig omtolkas, rekonstrueras, över tiden. Mot bakgrund av detta menar jag att en organisations innehåll och process är förutsättningar för varandra. Båda är viktiga for vad en organisation utvecklas till. Studien visar också att kontexten påverkat utvecklaodet av vilka man är. Verksamhetens art, organisationens geografiska läge samt tid i form av historiskt arv och aktöremas tankar om framtiden för organisationen har varit av betydelse för vad ÖstSam utvecklats till i termer av identitet.
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26. |
- Jönsson, K. Ingemar, 1959-, et al.
(author)
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Sexual patterns of prebreeding energy reserves in the common frog Rana temporaria along a latitudinal gradient
- 2009
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In: Ecography. - : Wiley-Blackwell. - 0906-7590 .- 1600-0587. ; 32:5, s. 831-839
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Journal article (peer-reviewed)abstract
- The ability to store energy is an important life history trait for organisms facing long periods without energy income, and in particular for capital breeders such as temperate zone amphibians, which rely on stored energy during reproduction. However, large scale comparative studies of energy stores in populations with different environmental constraints on energy allocation are scarce. We investigated energy storage patterns in spring (after hibernation and before reproduction) in eight common frog (Rana temporaria) populations exposed to different environmental conditions along a 1600 km latitudinal gradient across Scandinavia (range of annual activity period 3-7 months). Analyses of lean body weight (eviscerated body mass), weight of fat bodies, liver weight, and liver fat content, showed that (i) post-hibernation/pre-breeding energy stores increased with increasing latitude in both sexes, (ii) males generally had larger energy reserves than females and (iii) the difference in energy stores between sexes decreased towards the north. Larger energy reserves towards the north can serve as a buffer against less predictable and/or less benign weather conditions during the short activity period, and may also represent a risk-averse tactic connected with a more pronounced iteroparous life history. In females, the continuous and overlapping vitellogenic activity in the north may also demand more reserves in early spring. The general sexual difference could be a consequence of the fact that, at the time of our sampling, females had already invested their energy into reproduction in the given year (i.e. their eggs were already ovulated), while the males' main reproductive activities (e.g. calling, mate searching, sexual competition) occurred later in the season.
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27. |
- Karlsson, Kristin E., et al.
(author)
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Modeling Disease Progression in Acute Stroke Using Clinical Assessment Scales
- 2010
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In: AAPS Journal. - : Springer Science and Business Media LLC. - 1550-7416. ; 12:4, s. 683-691
-
Journal article (peer-reviewed)abstract
- This article demonstrates techniques for describing and predicting disease progression in acute stroke by modeling scores measured using clinical assessment scales, accommodating dropout as an additional source of information. Scores assessed using the National Institutes of Health Stroke Scale and the Barthel Index in acute stroke patients were used to model the time course of disease progression. Simultaneous continuous and probabilistic models for describing the nature and magnitude of score changes were developed, and used to model the trajectory of disease progression using scale scores. The models described the observed data well, and exhibited good simulation properties. Applications include longitudinal analysis of stroke scale data, clinical trial simulation, and prognostic forecasting. Based upon experience in other areas, it is likely that application of this modeling methodology will enable reductions in the number of patients needed to carry out clinical studies of treatments for acute stroke.
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28. |
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29. |
- Khatri, B., et al.
(author)
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Genome-wide association study identifies Sjogren's risk loci with functional implications in immune and glandular cells
- 2022
-
In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 13:1
-
Journal article (peer-reviewed)abstract
- Sjogren's disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjogren's cases of European ancestry: CD247, NAB1, PTTG1-MIR146A, PRDM1-ATG5, TNFAIP3, XKR6, MAPT-CRHR1, RPTOR-CHMP6-BAIAP6, TYK2, SYNGR1. Polygenic risk scores yield predictability (AUROC = 0.71) and relative risk of 12.08. Interrogation of bioinformatics databases refine the associations, define local regulatory networks of GWS SNPs from the 95% credible set, and expand the implicated gene list to >40. Many GWS SNPs are eQTLs for genes within topologically associated domains in immune cells and/or eQTLs in the main target tissue, salivary glands. The genetic architecture underlying Sjogren's syndrome is not fully understood. Here, the authors perform a genome-wide association study to identify 10 new genetic risk regions, implicating genes involved in immune and salivary gland function.
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30. |
- Klingbjer, Per, 1964-
(author)
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Glaciers and climate in northern Sweden during the 19th and 20th century
- 2004
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Doctoral thesis (other academic/artistic)abstract
- Our understanding of the climate of northern Sweden during the late Holocene is largely dependent on proxy-data series. These datasets remain spatially and temporally sparse and instrumental series are rare prior to the mid 19th century. Nevertheless, the glaciology and paleo-glaciology of the region has a strong potential significance for the exploration of climate change scenarios, past and future. The aim of this thesis is to investigate the 19th and 20th century climate in the northern Swedish mountain range. This provides a good opportunity to analyse the natural variability of the climate before the onset of the industrial epoch. Developing a temporal understanding of fluctuations in glacier front positions and glacier mass balance that is linked to a better understanding of their interaction and relative significance to climate is fundamental in the assessment of past climate.I have chosen to investigate previously unexplored temperature data from northern Sweden from between 1802 and 1860 and combined it with a temperature series from a synoptic station in Haparanda, which began operation in 1859, in order to create a reliable long temperature series for the period 1802 to 2002. I have also investigated two different glaciers, Pårteglaciären and Salajekna, which are located in different climatic environments. These glaciers have, from a Swedish perspective, long observational records. Furthermore, I have investigated a recurring jökulhlaup at the glacier Sälkaglaciären in order to analyse glacier-climate relationships with respect to the jökulhlaups. A number of datasets are presented, including: glacier frontal changes, in situ and photogrammetric mass balance data, in situ and satellite radar interferometry measurements of surface velocity, radar measurements, ice volume data and a temperature series. All these datasets are analysed in order to investigate the response of the glaciers to climatic stimuli, to attribute specific behaviour to particular climates and to analyse the 19th and 20th century glacier/climate relationships in northern Sweden.The 19th century was characterized by cold conditions in northern Sweden, particularly in winter. Significant changes in the amplitude of the annual temperature cycle are evident. Through the 19th century there is a marked decreasing trend in the amplitude of the data, suggesting a change towards a prevalence of maritime (westerly) air masses, something which has characterised the 20th century. The investigations on Salajekna support the conclusion that the major part of the 19th century was cold and dry. The 19th century advance of Salajekna was probably caused by colder climate in the late 18th and early 19th centuries, coupled with a weakening of the westerly airflow. The investigations on Pårteglaciären show that the glacier has a response time of ~200 years. It also suggests that there was a relatively high frequency of easterly winds providing the glacier with winter precipitation during the 19th century.Glaciers have very different response times and are sensitive to different climatic parameters. Glaciers in rather continental areas of the Subarctic and Arctic can have very long response times because of mass balance considerations and not primarily the glacier dynamics. This is of vital importance for analyzing Arctic and Subarctic glacier behaviour in a global change perspective. It is far from evident that the behaviour of the glacier fronts today reflects the present climate.
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31. |
- Kotta, Jonne, et al.
(author)
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Cleaning up seas using blue growth initiatives: Mussel farming for eutrophication control in the Baltic Sea
- 2020
-
In: Science of the Total Environment. - : Elsevier BV. - 0048-9697 .- 1879-1026. ; 709
-
Journal article (peer-reviewed)abstract
- © 2019 The Authors Eutrophication is a serious threat to aquatic ecosystems globally with pronounced negative effects in the Baltic and other semi-enclosed estuaries and regional seas, where algal growth associated with excess nutrients causes widespread oxygen free “dead zones” and other threats to sustainability. Decades of policy initiatives to reduce external (land-based and atmospheric) nutrient loads have so far failed to control Baltic Sea eutrophication, which is compounded by significant internal release of legacy phosphorus (P) and biological nitrogen (N) fixation. Farming and harvesting of the native mussel species (Mytilus edulis/trossulus) is a promising internal measure for eutrophication control in the brackish Baltic Sea. Mussels from the more saline outer Baltic had higher N and P content than those from either the inner or central Baltic. Despite their relatively low nutrient content, harvesting farmed mussels from the central Baltic can be a cost-effective complement to land-based measures needed to reach eutrophication status targets and is an important contributor to circularity. Cost effectiveness of nutrient removal is more dependent on farm type than mussel nutrient content, suggesting the need for additional development of farm technology. Furthermore, current regulations are not sufficiently conducive to implementation of internal measures, and may constitute a bottleneck for reaching eutrophication status targets in the Baltic Sea and elsewhere.
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32. |
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33. |
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34. |
- Meyer, H., et al.
(author)
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Overview of progress in European medium sized tokamaks towards an integrated plasma-edge/wall solution
- 2017
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In: Nuclear Fusion. - : Institute of Physics Publishing (IOPP). - 0029-5515 .- 1741-4326. ; 57:10
-
Journal article (peer-reviewed)abstract
- Integrating the plasma core performance with an edge and scrape-off layer (SOL) that leads to tolerable heat and particle loads on the wall is a major challenge. The new European medium size tokamak task force (EU-MST) coordinates research on ASDEX Upgrade (AUG), MAST and TCV. This multi-machine approach within EU-MST, covering a wide parameter range, is instrumental to progress in the field, as ITER and DEMO core/pedestal and SOL parameters are not achievable simultaneously in present day devices. A two prong approach is adopted. On the one hand, scenarios with tolerable transient heat and particle loads, including active edge localised mode (ELM) control are developed. On the other hand, divertor solutions including advanced magnetic configurations are studied. Considerable progress has been made on both approaches, in particular in the fields of: ELM control with resonant magnetic perturbations (RMP), small ELM regimes, detachment onset and control, as well as filamentary scrape-off-layer transport. For example full ELM suppression has now been achieved on AUG at low collisionality with n = 2 RMP maintaining good confinement H-H(98,H-y2) approximate to 0.95. Advances have been made with respect to detachment onset and control. Studies in advanced divertor configurations (Snowflake, Super-X and X-point target divertor) shed new light on SOL physics. Cross field filamentary transport has been characterised in a wide parameter regime on AUG, MAST and TCV progressing the theoretical and experimental understanding crucial for predicting first wall loads in ITER and DEMO. Conditions in the SOL also play a crucial role for ELM stability and access to small ELM regimes.
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35. |
- Moksnes, Per-Olav, 1965, et al.
(author)
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Identifying new areas adding larval connectivity to existing networks of MPAs : The case of Kattegat and Skagerrak
- 2015
-
Reports (other academic/artistic)abstract
- Networks of marine protected areas (MPAs) are presently being developed in many countries with the aim to preserve biodiversity and restore overexploited stocks. However, one major challenge for the design and management of a functional MPA-network is the lack of information about how larval dispersal affects connectivity in the network and persistence of included species. Tools have been lacking that include larval connectivity into design and assessment of MPA-network, and in particular regarding finding the best new areas that will enhance larval connectivity in the existing networks. In the present study we build on earlier model studies on larval dispersal and assessment of MPA-networks in the Kattegat-Skagerrak area (Moksnes et al. 2014), and use novel theoretical tools to identify new areas for the existing MPA-network in the Skagerrak-Kattegat-Danish Strait area that would best enhance larval connectivity for benthic communities living shallower than 100 m. We also use new methods to identify areas with restricted larval dispersal and subpopulations within the study area, to assist in the selection of new MPAs. The assessment includes also benthic communities that are intolerant to low salinities and therefore have limited distribution in the Baltic Sea. The study demonstrates that the connectivity and protection of benthic communities in the existing MPA-network could be substantially improved by a relatively small addition of carefully selected new MPAs. Adding approximately 1000 km2 of model-selected areas to the existing network (representing an extension of the existing network area with 15–19 %) increased the simulated populations of benthic organism with on average 39–103 % in comparison with the existing network. In contrast, a random selection of new MPAs of the same size only increased the population sizes with 0–19 %. The study identified several areas with restricted larval dispersal and isolated subpopulations within the study area, which may have important implications for management of both genetic and species diversity. The results suggest that it may be important to manage the western Baltic Sea, Kattegat, coastal Skagerrak (including both the Swedish and Norwegian coasts) and the area northwest of Jutland as separate management units since restricted larval dispersal may create genetically distinct subpopulations in these regions. The study also identified restricted larval dispersal within Kattegat and Skagerrak that may create areas with benthic communities that are demographically isolated from neighboring communities. For management of populations and local species diversity, it is important to ensure that there are MPAs within each demographically isolated area. One such area was identified along the Swedish Kattegat coast, which presently has few large MPAs, in particular for shallow benthic communities (<20 m). The analysis identified shallow areas within the larger bays Skälderviken and the Laholmsbukten, and a deeper area located between the Laholmsbukten and Stora Middelgrund in southeastern Kattegatt as being key areas for larval connectivity and persistence of shallow and deep benthic communities, respectively, in Kattegat. The results suggest that these areas (covering approximately 700 km2 in total) constitute the best additions, in respect of larval connectivity, to the existing MPA-network found within Swedish waters. For management purposes, these results should only be viewed as guide for identifying general areas within the study region that are important for improving the connectivity of pelagic larvae within the existing MPA-network. Due to the limitation of the model they should not be viewed as a blue-print of the exact locations of an optimal extension, particularly not in the coastal zone. However, the study does represent the best available assessment to day of larval dispersal and connectivity in the study area, and the result could therefore provide manager with helpful information of one important aspect to include in the decision process when selecting new MPAs.
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36. |
- Moksnes, Per-Olav, et al.
(author)
-
Larval behavior and dispersal mechanisms in shore crab larvae : Local adaptations to different tidal environments?
-
Other publication (other academic/artistic)abstract
- Recent studies indicate that local adaptations may occur in marine populations over relatively small geographic areas despite high dispersal potential if strong environmental gradients are present. Here we assess if local adaptations in larval behavior can develop in response to tidal gradients by studying the shore crab Carcinus maenas in the North Sea area using a combination of empirical and model studies. Specific aims of the study was to assess if shore crab larvae from different tidal environments have different swimming behaviors, and if these behaviors affect connectivity and recruitment success of the larvae. Field and laboratory studies demonstrated that newly hatched shore crab larvae from mesotidal Danish Wadden Sea displayed an inherited vertical migration rhythm with a circatidal periodicity, and that postlarvae swam in surface water almost exclusively during flood tides, suggesting that larvae use selective tidal stream transport to control the dispersal process. In contrast, shore crab larvae from microtidal Skagerrak displayed a nocturnal vertical migration behavior that switched to a diurnal behavior at the end of the larval phase, indicating an adaptation to avoid visual predators and to use wind-driven transport to reach shallow settlement areas. Results from a biophysical model showed that larval swimming behavior had a dominant role for the dispersal process and the recruitment success in the study area, and demonstrated that modeled tidal-migrating larvae in Wadden Sea had 2x higher recruitment success than larvae with a diel behavior. However, in microtidal Skagerrak no differences in recruitment success was found between the two larval behaviors. Lower fitness is suggested for tidal-migrating larvae in microtidal regions due to a predicted higher predation mortality. Consistent with recent population genetic studies, connectivity analyses indicated an oceanographic dispersal barrier in Eastern Wadden Sea that will restrict gene-flow between the two areas, and allow local adaptations in larval behavior.
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37. |
- Moksnes, Per-Olav, 1965, et al.
(author)
-
Larval behavior and dispersal mechanisms in shore crab larvae: Local adaptations to different tidal environments?
- 2014
-
In: Limnology and Oceanography. - : Wiley. - 0024-3590. ; 59:2, s. 588-602
-
Journal article (peer-reviewed)abstract
- Using a combination of empirical and model studies we tested whether European shore crab larvae (Carcinus maenas) from environments with different tidal regimes in the North Sea area have different swimming behaviors, and whether this affects connectivity and settlement success of larvae. Laboratory studies demonstrated the presence of an inherited tidal migration rhythm in newly hatched crab larvae from the mesotidal Danish Wadden Sea, and field studies showed that postlarvae swam in surface water almost exclusively during flood tides, suggesting that larvae use selective tidal stream transport to control the dispersal process. In contrast, shore crab larvae from microtidal Skagerrak displayed a nocturnal vertical migration behavior that appeared to switch to a diurnal behavior at the end of the postlarval phase, indicating an adaptation to avoid visual predators and to use wind-driven transport to reach shallow settlement areas. A biophysical model showed that tidal-migrating larvae in the Wadden Sea had two times higher settlement success than larvae with a diel behavior. However, no differences in settlement success were found between the two larval behaviors in microtidal Skagerrak, where lower fitness is suggested for tidal-migrating larvae due to higher predation mortality from visual predators. We suggest that the differences in inherited larval behavior in larvae from meso- and microtidal regions reflect local adaptations maintained through natural selection of successful recruits. Consistent with recent population genetic studies, modeled connectivity of shore crabs indicated an oceanographic dispersal barrier to gene flow in Eastern Wadden Sea that may facilitate such adaptations.
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38. |
- Moksnes, Per-Olav, 1965, et al.
(author)
-
Larval connectivity and ecological coherence of marine protected areas (MPAs) in the Kattegat-Skagerrak region
- 2014
-
Reports (other academic/artistic)abstract
- Marine protected areas (MPAs) are considered effective instrument to mitigate the loss of biodiversity in the sea. However, the management of MPA-networks is challenged by a lack of information of habitat distribution, and of how populations are connected between habitats and MPAs through dispersal of pelagic larval stages. In this study, the effect of larval connectivity on the ecological coherence of the MPA-networks in the Kattegat-Skagerrak area of the North Sea is investigated with special focus on the OSPAR-MPAs. By using biophysical models, the larval dispersal and connectivity of benthic organisms in the Kattegat-Skagerrak area is assessed. The report also aims to assess if a series of new model tools can be applied to identify optimal MPA-networks for benthic communities, and evaluate the existing MPA-networks with regards to larval connectivity. This report was prepared on request by the Swedish Agency for Water and Marine Management.
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39. |
- Moksnes, Per-Olav, 1965, et al.
(author)
-
Larval connectivity and marine protected area networks
- 2020
-
In: In: Anger K, Harzsch S, Thiel M. Developmental biology and larval ecology: Natural history of crustaceans, Vol 7. - New York : Oxford University Press. - 9780190648954 ; , s. 408-436
-
Book chapter (peer-reviewed)
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40. |
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41. |
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42. |
- Moschella, P. S., et al.
(author)
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Low-crested coastal defence structures as artificial habitats for marine life: Using ecological criteria in design
- 2005
-
In: Coastal Engineering. - : Elsevier BV. - 0378-3839. ; 52:10-11, s. 1053-1071
-
Journal article (peer-reviewed)abstract
- Coastal defence structures to protect sedimentary coastlines from erosion and flooding are increasingly common throughout Europe. They will become more widespread over the next 10-30 years in response to rising and stormier seas and accelerating economic development of the coastal zone. Building coastal defences results in the loss and fragmentation of sedimentary habitats and their replacement by artificial rocky habitats that become colonised by algae and marine animals. The engineering design and construction of these structures have received considerable attention. However, the ecological consequences of coastal defences have been less extensively investigated. Furthermore, due to their rapid proliferation, there is a growing need to understand the role of these man-made habitats in the coastal ecosystems in order to implement impact minimisation and/or mitigation measures. As part of the DELOS project, targeted studies were carried out throughout Europe to assess the ecological similarity of low-crested coastal defence structures (LCS) to natural rocky shores and to investigate the influence of LCS design features on the colonising marine epibiota. LCSs can be considered as a relatively poor surrogate of natural rocky shores. Epibiotic communities were qualitatively similar to those on natural rocky shores as both habitats are regulated by the same physical and biological factors. However, there were quantitative differences in the diversity and abundance of epibiota on artificial structures. Typically, epibiotic assemblages were less diverse than rocky shore communities. Also, LCSs offered less structurally complex habitats for colonisation and in some locations experienced higher disturbance than natural shores. We propose several criteria that can be integrated into the design and construction of LCSs to minimise ecological impacts and allow targeted management of diversity and natural living resources. (c) 2005 Elsevier B.V. All rights reserved.
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43. |
- Nilsson, Björn, et al.
(author)
-
Seascapes of stability and change: the archaeological and ecological potential of the early mesolithic seascapes with examples from Haväng in SE Baltic, Sweden
- 2018
-
In: Ecology of Early Settlement in Northern Europe Conditions for Subsistence and Survival The Early Settlement of Northern Europe, Volume 1. - 9781781795156 - 9781781796030 ; 1, s. 335-352
-
Book chapter (peer-reviewed)abstract
- The sea level low stand period during the Early Mesolithic in SE Baltic (c. 9,500-6,500 BC) has resulted in vast inundated areas. Some of the sites have yielded extensive remains of lagoonal and riverine sediments, as well as areas with trees preserved in situ. Investigations at one of the sites - Haväng in eastern Scania - have resulted in archaeological findings from the entire period. The preservation of organic materials are very good, and gives new insights in material culture and fishing technologies. Extensive surveying and hydro-acoustic mapping gives possibilities to draw some conclusion of the possible timing of the introduction of stationary fishing and how this relates to cultural and natural changes. The paper proposes that riverine stationary fisheries in the southern Baltic were introduced during the Boreal period (7000 BC or earlier). The Maglemose fisheries are proposed as indirect evidence of early seascape territorialisation, which must be understood in a cultural and ecological context.
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44. |
- Nordmark, Gunnel, et al.
(author)
-
Association of Genes in the NF-κB Pathway with Antibody-Positive Primary Sjögren's Syndrome
- 2013
-
In: Scandinavian Journal of Immunology. - : Wiley-Blackwell. - 0300-9475 .- 1365-3083. ; 78:5, s. 447-454
-
Journal article (peer-reviewed)abstract
- Primary Sjogrens syndrome (SS) is a systemic autoimmune inflammatory disease characterized by focal lymphocytic infiltrates in the lachrymal and salivary glands and autoantibodies against the SSA/Ro and SSB/La antigens. Experimental studies have shown an activation of NF-B in primary SS. NF-B activation results in inflammation and autoimmunity and is regulated by inhibitory and activating proteins. Genetic studies have shown an association between multiple autoimmune diseases and TNFAIP3 (A20) and TNIP1 (ABIN1), both repressors of NF-B and of IKBKE (IKK epsilon), which is an NF-B activator. The aim of this study was to analyse single nucleotide polymorphisms (SNPs) in the IKBKE, NFKB1, TNIP1 and TNFAIP3 genes for association with primary SS. A total of 12 SNPs were genotyped in 1105 patients from Scandinavia (Sweden and Norway, n=684) and the UK (n=421) and 4460 controls (Scandinavia, n=1662, UK, n=2798). When patients were stratified for the presence of anti-SSA and/or anti-SSB antibodies (n=868), case-control meta-analysis found an association between antibody-positive primary SS and two SNPs in TNIP1 (P=3.4x10(-5), OR=1.33, 95%CI: 1.16-1.52 for rs3792783 and P=1.3x10(-3), OR=1.21, 95%CI: 1.08-1.36 for rs7708392). A TNIP1 risk haplotype was associated with antibody-positive primary SS (P=5.7x10(-3), OR=1.47, 95%CI: 1.12-1.92). There were no significant associations with IKBKE, NFKB1 or TNFAIP3 in the meta-analysis of the Scandinavian and UK cohorts. We conclude that polymorphisms in TNIP1 are associated with antibody-positive primary SS.
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45. |
- Ramirez, Jorge, et al.
(author)
-
Difference in Clinical Presentation between Female and Male Patients with Primary Sjogren's Syndrome at Diagnosis and in Long-Term Follow-up
- 2017
-
In: Arthritis & Rheumatology. - : Wiley-Blackwell. - 2326-5191 .- 2326-5205. ; 69
-
Journal article (other academic/artistic)abstract
- Background/Purpose: Despite men being less prone to develop autoimmune diseases, male sex has been associated with a more severe disease course in several systemic autoimmune diseases. In the present study, we aimed to identify differences in clinical presentation between the sexes at the time of diagnosis and during long-term follow-up of primary Sjögren's syndrome (pSS), and to establish whether male sex is associated with a more severe form of pSS. Methods: Incident, treatment naïve patients (n=199, 186 females and 13 males) from Stockholm, Sweden were prospectively included during a 5-year period and examined for items of classification criteria for pSS as well as extraglandular manifestations (EGM). Serum was sampled at the time of diagnosis and anti-Ro52/SSA levels measured by ELISA. Replication of significant findings was confirmed in an independent cohort of incident pSS patients from Pisa, Italy (n=377, 368 females and 9 males), and meta-analysis performed. We further studied a cohort of 967 patients with prevalent pSS (899 females and 68 males) from Scandinavian clinical centers. The mean follow-up time (years) was 8.8 ± 7.6 for women and 8.5 ± 6.2 for men (ns). Clinical data including serological and hematological parameters, glandular, EGM and comorbidities were compared between men and women. Results: An increased frequency of EGM in men at diagnosis was observed and replicated (p=0.05, p=0.0003, and pmeta=0.002, respectively). This related to pulmonary involvement, vasculitis and lymphadenopathy being more common in men, for whom a lower age at diagnosis was observed in the exploratory cohort. Additionally, SSA positive male patients had significantly higher levels of anti-Ro52 levels than their female counterparts (p=0.02). After long-term follow-up, male patient serology was characterized by more frequent positivity for anti-SSA and anti-SSB (p=0.02), and ANA (p=0.02). Also, men with pSS were more frequently diagnosed with interstitial lung disease (p=0.008), lymphadenopathy (p=0.04) and lymphoma (p=0.007). Conversely, concomitant hypothyroidism was more common among female patients (p=0.009). Conclusion: Our analysis of two independent cohorts of incident pSS and a large cohort of prevalent pSS demonstrates significant differences between women and men with pSS. Notably, men present with more EGM, enhanced serological profile and a higher frequency of lymphoma development.
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46. |
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47. |
- Reksten, Tove Ragna, et al.
(author)
-
Genetic associations to germinal centre formation in primary Sjögren's syndrome
- 2014
-
In: Annals of the Rheumatic Diseases. - : BMJ. - 0003-4967 .- 1468-2060. ; 73:6, s. 1253-1258
-
Journal article (peer-reviewed)abstract
- BackgroundPrimary Sjögren's syndrome (pSS) is an autoimmune rheumatic disease mainly characterised by focal mononuclear cell infiltration in the salivary and lacrimal glands, and by the symptoms xerostomia and keratoconjunctivitis sicca. Germinal centre-like structures (GC) are found in the minor salivary glands of approximately 25% of patients. In this study, we aimed to assess genetic variations in pSS patients with GC-like formations (GC+) compared with patients without such formations (GC−).MethodsMinor salivary gland biopsies from Swedish and Norwegian pSS patients (n=320) were evaluated for GC-like formations, identifying 76 GC+ and 244 GC− patients. A panel of 1536 single-nucleotide polymorphisms (SNPs) in 107 genes was genotyped. Minor allele frequencies in GC+ and GC− patients were compared using Fisher's exact test, and associations were considered significant when p<4.7×10−4 and suggestive when p<0.01.ResultsIn this case-only analysis, we identified two SNPs in CCL11 (eotaxin) associated with GC-like structures (p<4.7×10−4, OR 0.45 and 0.41, respectively). A haplotype of the two minor alleles was associated with GC status with p=2.6×10−4, OR 0.40. Suggestive associations (p<0.01) were found in SNPs in the B cell activation and/or GC-formation related genes AICDA, BANK1 and BCL2. Furthermore, SNPs in IL17A, ICA1, PKN1 and SNPs in the NF-κB pathway genes CARD8, IKBKE and TANK were found suggestively associated with GC-like structures.ConclusionsOur findings suggest that genetic variations may explain why ectopic GC-like structures are present in some pSS patients, and support the hypothesis that GC+ and GC− patients represent distinct disease phenotypes.
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48. |
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49. |
- Sepulveda, Jorge I. Ramirez, et al.
(author)
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Long-term follow-up in primary Sjögren's syndrome reveals differences in clinical presentation between female and male patients
- 2017
-
In: Biology of Sex Differences. - : BioMed Central. - 2042-6410. ; 8
-
Journal article (peer-reviewed)abstract
- Background: Despite men being less prone to develop autoimmune diseases, male sex has been associated with a more severe disease course in several systemic autoimmune diseases. In the present study, we aimed to investigate differences in the clinical presentation of primary Sjogren's syndrome (pSS) between the sexes and establish whether male sex is associated with a more severe form of long-term pSS. Methods: Our study population included 967 patients with pSS (899 females and 68 males) from Scandinavian clinical centers. The mean follow-up time (years) was 8.8 +/- 7.6 for women and 8.5 +/- 6.2 for men (ns). Clinical data including serological and hematological parameters and glandular and extraglandular manifestations were compared between men and women. Results: Male patient serology was characterized by more frequent positivity for anti-Ro/SSA and anti-La/SSB (p = 0. 02), and ANA (p = 0.02). Further, men with pSS were more frequently diagnosed with interstitial lung disease (p = 0. 008), lymphadenopathy (p = 0.04) and lymphoma (p = 0.007). Conversely, concomitant hypothyroidism was more common among female patients (p = 0.009). Conclusions: We observe enhanced serological responses and higher frequencies of lymphoma-related extraglandular manifestations in men with pSS. Notably, lymphoma itself was also significantly more common in men. These observations may reflect an aggravated immune activation and a more severe pathophysiological state in male patients with pSS and indicate a personalized managing of the disease due to the influence of the sex of patients with pSS.
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50. |
- Thorlacius, Guðný Ella, et al.
(author)
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Genetic and clinical basis for two distinct subtypes of primary Sjögren's syndrome
- 2021
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In: Rheumatology. - : Oxford University Press. - 1462-0324 .- 1462-0332. ; 60:2, s. 837-848
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Journal article (peer-reviewed)abstract
- ObjectivesClinical presentation of primary Sjögren’s syndrome (pSS) varies considerably. A shortage of evidence-based objective markers hinders efficient drug development and most clinical trials have failed to reach primary endpoints.MethodsWe performed a multicentre study to identify patient subgroups based on clinical, immunological and genetic features. Targeted DNA sequencing of 1853 autoimmune-related loci was performed. After quality control, 918 patients with pSS, 1264 controls and 107 045 single nucleotide variants remained for analysis. Replication was performed in 177 patients with pSS and 7672 controls.ResultsWe found strong signals of association with pSS in the HLA region. Principal component analysis of clinical data distinguished two patient subgroups defined by the presence of SSA/SSB antibodies. We observed an unprecedented high risk of pSS for an association in the HLA-DQA1 locus of odds ratio 6.10 (95% CI: 4.93, 7.54, P=2.2×10−62) in the SSA/SSB-positive subgroup, while absent in the antibody negative group. Three independent signals within the MHC were observed. The two most significant variants in MHC class I and II respectively, identified patients with a higher risk of hypergammaglobulinaemia, leukopenia, anaemia, purpura, major salivary gland swelling and lymphadenopathy. Replication confirmed the association with both MHC class I and II signals confined to SSA/SSB antibody positive pSS.ConclusionTwo subgroups of patients with pSS with distinct clinical manifestations can be defined by the presence or absence of SSA/SSB antibodies and genetic markers in the HLA locus. These subgroups should be considered in clinical follow-up, drug development and trial outcomes, for the benefit of both subgroups.
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