| 1. |
- Brænne, Ingrid, et al.
(författare)
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Dynamic changes in immune gene co-expression networks predict development of type 1 diabetes
- 2021
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 11, s. 1-13
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Tidskriftsartikel (refereegranskat)abstract
- Significant progress has been made in elucidating genetic risk factors influencing Type 1 diabetes (T1D); however, features other than genetic variants that initiate and/or accelerate islet autoimmunity that lead to the development of clinical T1D remain largely unknown. We hypothesized that genetic and environmental risk factors can both contribute to T1D through dynamic alterations of molecular interactions in physiologic networks. To test this hypothesis, we utilized longitudinal blood transcriptomic profiles in The Environmental Determinants of Diabetes in the Young (TEDDY) study to generate gene co-expression networks. In network modules that contain immune response genes associated with T1D, we observed highly dynamic differences in module connectivity in the 600 days (~ 2 years) preceding clinical diagnosis of T1D. Our results suggest that gene co-expression is highly plastic and that connectivity differences in T1D-associated immune system genes influence the timing and development of clinical disease.
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| 2. |
- Kattge, Jens, et al.
(författare)
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TRY plant trait database - enhanced coverage and open access
- 2020
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Ingår i: Global Change Biology. - : Wiley-Blackwell. - 1354-1013 .- 1365-2486. ; 26:1, s. 119-188
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Tidskriftsartikel (refereegranskat)abstract
- Plant traits-the morphological, anatomical, physiological, biochemical and phenological characteristics of plants-determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait-based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits-almost complete coverage for 'plant growth form'. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait-environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives.
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| 3. |
- Glantz, Maria, et al.
(författare)
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Impact of protease and lipase activities on quality of Swedish raw milk
- 2020
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Ingår i: International Dairy Journal. - : Elsevier BV. - 0958-6946. ; 107
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Tidskriftsartikel (refereegranskat)abstract
- An increasing demand for dairy products with long shelf-life is foreseen. A limiting factor for maintaining high quality of these products is the activity of spoilage enzymes during storage. Lipase and protease activities in Swedish raw milk at farm and dairy level were investigated, analysing milk samples from three geographical regions and two seasons. Lipase activity in milk at farm level was affected by regional and seasonal variations, whereas at dairy level only season had an effect. Lipase activity was positively correlated with ionic calcium. For protease activity, no effect of either region or season was seen. Degradation products, e.g., free fatty acids, peptides and plasmin proteolysis products, varied differently between season and geographical origin at both farm and dairy level. The results indicate that lipase and protease activities are important for raw milk quality, while ionic calcium might be a future indicator for milk fat stability.
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| 4. |
- Ji, Xuemei, et al.
(författare)
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Protein-altering germline mutations implicate novel genes related to lung cancer development
- 2020
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- Few germline mutations are known to affect lung cancer risk. We performed analyses of rare variants from 39,146 individuals of European ancestry and investigated gene expression levels in 7,773 samples. We find a large-effect association with an ATM L2307F (rs56009889) mutation in adenocarcinoma for discovery (adjusted Odds Ratio=8.82, P=1.18x10(-15)) and replication (adjusted OR=2.93, P=2.22x10(-3)) that is more pronounced in females (adjusted OR=6.81 and 3.19 and for discovery and replication). We observe an excess loss of heterozygosity in lung tumors among ATM L2307F allele carriers. L2307F is more frequent (4%) among Ashkenazi Jewish populations. We also observe an association in discovery (adjusted OR=2.61, P=7.98x10(-22)) and replication datasets (adjusted OR=1.55, P=0.06) with a loss-of-function mutation, Q4X (rs150665432) of an uncharacterized gene, KIAA0930. Our findings implicate germline genetic variants in ATM with lung cancer susceptibility and suggest KIAA0930 as a novel candidate gene for lung cancer risk. In lung cancer, relatively few germline mutations are known to impact risk. Here the authors looked at rare variants in 39,146 individuals and find novel germline mutations associated with risk, as well as implicating ATM and a new candidate gene for lung cancer risk.
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| 5. |
- Asp, Leif, 1966, et al.
(författare)
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A structural battery and its multifunctional performance
- 2021
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Ingår i: Advanced Energy and Sustainability Research. - : Wiley. - 2699-9412. ; 2:3
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Tidskriftsartikel (refereegranskat)abstract
- Engineering materials that can store electrical energy in structural load paths can revolutionize lightweight design across transport modes. Stiff and strong batteries that use solid-state electrolytes and resilient electrodes and separators are generally lacking. Herein, a structural battery composite with unprecedented multifunctional performance is demonstrated, featuring an energy density of 24 Wh kg-1 and an elastic modulus of 25 GPa and tensile strength exceeding 300 MPa. The structural battery is made from multifunctional constituents, where reinforcing carbon fibers (CFs) act as electrode and current collector. A structural electrolyte is used for load transfer and ion transport and a glass fiber fabric separates the CF electrode from an aluminum foil-supported lithium–iron–phosphate positive electrode. Equipped with these materials, lighter electrical cars, aircraft, and consumer goods can be pursued.
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| 6. |
- Dahlin, Anna M., 1979-, et al.
(författare)
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A genome-wide association study on medulloblastoma
- 2020
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Ingår i: Journal of Neuro-Oncology. - : Springer. - 0167-594X .- 1573-7373. ; 147:2, s. 309-315
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Medulloblastoma is a malignant embryonal tumor of the cerebellum that occurs predominantly in children. To find germline genetic variants associated with medulloblastoma risk, we conducted a genome-wide association study (GWAS) including 244 medulloblastoma cases and 247 control subjects from Sweden and Denmark.Methods: Genotyping was performed using Illumina BeadChips, and untyped variants were imputed using IMPUTE2.Results: Fifty-nine variants in 11 loci were associated with increased medulloblastoma risk (p < 1 × 10–5), but none were statistically significant after adjusting for multiple testing (p < 5 × 10–8). Thirteen of these variants were genotyped, whereas 46 were imputed. Genotyped variants were further investigated in a validation study comprising 249 medulloblastoma cases and 629 control subjects. In the validation study, rs78021424 (18p11.23, PTPRM) was associated with medulloblastoma risk with OR in the same direction as in the discovery cohort (ORT = 1.59, pvalidation = 0.02). We also selected seven medulloblastoma predisposition genes for investigation using a candidate gene approach: APC, BRCA2, PALB2, PTCH1, SUFU, TP53, and GPR161. The strongest evidence for association was found for rs201458864 (PALB2, ORT = 3.76, p = 3.2 × 10–4) and rs79036813 (PTCH1, ORA = 0.42, p = 2.6 × 10–3).Conclusion: The results of this study, including a novel potential medulloblastoma risk loci at 18p11.23, are suggestive but need further validation in independent cohorts.
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| 7. |
- Hukkinen, Maria, et al.
(författare)
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Management strategies and treatment results of pediatric choledochal malformations in the Nordic countries
- 2020
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Ingår i: HPB. - : Elsevier BV. - 1365-182X. ; 22:1, s. 161-168
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Tidskriftsartikel (refereegranskat)abstract
- Background: Incidence and long-term outcomes of choledochal malformations (CMs) in children remain unclear. Methods: Clinical characteristics, operative details, complications, and follow-up data were collected from eight pediatric surgical centers in Sweden, Norway, Denmark, and Finland, which also answered a questionnaire addressing management practices. Results: During 2000–2017, 126 pediatric CMs were diagnosed, corresponding an incidence of 1:37,400. Diagnostic, treatment, and follow-up practices varied markedly. Of patients with complete clinical data (n = 119), 85% and 11% had type I and IV CMs and were managed by open hepaticojejunostomy at median age of 2.5 (interquartile range 0.46–5.8) years. Associated malformations were more common in fusiform and type IV (23%) than cystic CMs (8%, p = 0.043). Pancreaticobiliary maljunction was more frequently confirmed in patients presenting with pancreatitis (26% vs. 7%, p = 0.005) and with fusiform CMs (56% vs. 25%, p = 0.001). Cholangitis/pancreatitis episodes, occurring in 12% during postoperative follow-up of 4.0 (2.0–7.9) years, associated with longer surveillance (OR 1.32, 95% CI 1.13–1.54, p < 0.001). However, only two thirds of centers continued follow-up until adulthood. No malignancies were reported. Conclusions: CM incidence was higher than traditionally reported among Western populations. Although open hepaticojejunostomy carries good short-term outcomes, long-term morbidity is noteworthy. Standardized evidence-based management strategies and long-term follow-up are encouraged.
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| 8. |
- Myksvoll, Mari S., et al.
(författare)
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Linking dispersal connectivity to population structure and management boundaries for saithe in the Northeast Atlantic
- 2021
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Ingår i: Marine Ecology Progress Series. - : Inter-Research Science Center. - 0171-8630 .- 1616-1599. ; 680, s. 177-191
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Tidskriftsartikel (refereegranskat)abstract
- Population connectivity is an increasingly important focal area for the understanding of how marine fish populations respond to anthropogenic pressures like climate change and fisheries. Our model species, the saithe Pollachius virens (Linnaeus, 1758), was chosen because genetic analyses have documented a mismatch between the assessed stocks and the biological populations. We combined laboratory experiments of saithe egg buoyancy and temperature-modulated development time, genetic field data, and high-resolution oceanographic models to disentangle the mechanisms causing isolation and mixing between the management units and the biological populations. Saithe egg buoyancy and development data were included in an individual-based model to simulate transport from all known spawning grounds in the Northeast Atlantic. The results show that interannual variability in the transport of early life stages is strongly influenced by wider climate systems (e.g. the North Atlantic Oscillation). One sample (Rockall) showed genetic differences from the other samples, and this finding was supported by the model showing low mixing with other populations and strong local retention. Strong retention of early life stages around Iceland could indicate an isolated population; however, this possible isolation is counteracted by active migration of adults westward from the Norwegian coast, and no genetic differentiation from other populations was found. Overall, the dispersal modeling supports the genetic analysis, showing a large and well-connected Central Northeast Atlantic population distributed across several management units. This mismatch between population structure and management units can potentially increase the risk for overexploitation of saithe.
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| 9. |
- Nilsson, Kajsa, et al.
(författare)
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An investigation of the enzymatic cleavage of κ-casein in non-coagulating milk
- 2020
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Ingår i: International Dairy Journal. - : Elsevier BV. - 0958-6946. ; 109
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Tidskriftsartikel (refereegranskat)abstract
- Non-coagulating milk is unwanted in cheese production because it impairs chymosin-induced coagulation properties in bulk milk. Milk samples were analysed to investigate the coagulation process in non-coagulating milk for comparison with milk samples that have a high coagulation ability. This was done by measuring two peptides after chymosin cleavage, namely para-κ-casein and caseinomacropeptide, in all the milk samples using capillary electrophoresis. The results showed that cleavage of κ-casein into para-κ-casein and caseinomacropeptide occurred in both coagulation groups, suggesting that the aggregation stage is the cause of non-coagulating milk. Non-coagulating milk had lower content of para-κ-casein after chymosin addition compared with coagulating milk, which might be the result of a lower content of available κ-casein. Furthermore, this study indicates that there are different mechanisms that explain good coagulation ability and lack of coagulation ability of milk. The results can be useful in understanding the potential chemical mechanisms behind non-coagulating milk.
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| 10. |
- Sønderby, Ida E., et al.
(författare)
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1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
- 2021
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Ingår i: Translational Psychiatry. - : Nature Publishing Group. - 2158-3188. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers-the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.
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