| 1. |
- Moberg, Christina, et al.
(författare)
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De unga gör helt rätt när de stämmer staten
- 2022
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Ingår i: Aftonbladet. - 1103-9000.
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Tidskriftsartikel (populärvet., debatt m.m.)abstract
- 1 620 forskare och lärare i forskarvärlden: Vi ställer oss bakom Auroras klimatkrav
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| 2. |
- Davies, G., et al.
(författare)
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Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
- 2018
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Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 9:1
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Tidskriftsartikel (refereegranskat)abstract
- General cognitive function is a prominent and relatively stable human trait that is associated with many important life outcomes. We combine cognitive and genetic data from the CHARGE and COGENT consortia, and UK Biobank (total N = 300,486; age 16-102) and find 148 genome-wide significant independent loci (P < 5 × 10-8) associated with general cognitive function. Within the novel genetic loci are variants associated with neurodegenerative and neurodevelopmental disorders, physical and psychiatric illnesses, and brain structure. Gene-based analyses find 709 genes associated with general cognitive function. Expression levels across the cortex are associated with general cognitive function. Using polygenic scores, up to 4.3% of variance in general cognitive function is predicted in independent samples. We detect significant genetic overlap between general cognitive function, reaction time, and many health variables including eyesight, hypertension, and longevity. In conclusion we identify novel genetic loci and pathways contributing to the heritability of general cognitive function.
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| 3. |
- Savage, J. E., et al.
(författare)
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Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence
- 2018
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 50:7, s. 912-919
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Tidskriftsartikel (refereegranskat)abstract
- Intelligence is highly heritable 1 and a major determinant of human health and well-being 2 . Recent genome-wide meta-analyses have identified 24 genomic loci linked to variation in intelligence 3-7, but much about its genetic underpinnings remains to be discovered. Here, we present a large-scale genetic association study of intelligence (n = 269,867), identifying 205 associated genomic loci (190 new) and 1,016 genes (939 new) via positional mapping, expression quantitative trait locus (eQTL) mapping, chromatin interaction mapping, and gene-based association analysis. We find enrichment of genetic effects in conserved and coding regions and associations with 146 nonsynonymous exonic variants. Associated genes are strongly expressed in the brain, specifically in striatal medium spiny neurons and hippocampal pyramidal neurons. Gene set analyses implicate pathways related to nervous system development and synaptic structure. We confirm previous strong genetic correlations with multiple health-related outcomes, and Mendelian randomization analysis results suggest protective effects of intelligence for Alzheimer's disease and ADHD and bidirectional causation with pleiotropic effects for schizophrenia. These results are a major step forward in understanding the neurobiology of cognitive function as well as genetically related neurological and psychiatric disorders.
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| 4. |
- Wang, Yunzhang, et al.
(författare)
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Comprehensive longitudinal study of epigenetic mutations in aging
- 2019
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Ingår i: Clinical Epigenetics. - : BioMed Central. - 1868-7083 .- 1868-7075. ; 11
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Tidskriftsartikel (refereegranskat)abstract
- Background: The role of DNA methylation in aging has been widely studied. However, epigenetic mutations, here defined as aberrant methylation levels compared to the distribution in a population, are less understood. Hence, we investigated longitudinal accumulation of epigenetic mutations, using 994 blood samples collected at up to five time points from 375 individuals in old ages.Results: We verified earlier cross-sectional evidence on the increase of epigenetic mutations with age, and identified important contributing factors including sex, CD19+ B cells, genetic background, cancer diagnosis, and technical artifacts. We further classified epigenetic mutations into High/Low Methylation Outliers (HMO/LMO) according to their changes in methylation, and specifically studied methylation sites (CpGs) that were prone to mutate (frequently mutated CpGs). We validated four epigenetically mutated CpGs using pyrosequencing in 93 samples. Furthermore, by using twins, we concluded that the age-related accumulation of epigenetic mutations was not related to genetic factors, hence driven by stochastic or environmental effects.Conclusions: Here we conducted a comprehensive study of epigenetic mutation and highlighted its important role in aging process and cancer development.
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| 5. |
- Zhan, Y., et al.
(författare)
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Exploring the Causal Pathway from Telomere Length to Coronary Heart Disease : A Network Mendelian Randomization Study
- 2017
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Ingår i: Circulation Research. - : Lippincott Williams and Wilkins. - 0009-7330 .- 1524-4571. ; 121:3, s. 214-219
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Tidskriftsartikel (refereegranskat)abstract
- Rationale: Observational studies have found shorter leukocyte telomere length (TL) to be a risk factor for coronary heart disease (CHD), and recently the association was suggested to be causal. However, the relationship between TL and common metabolic risk factors for CHD is not well understood. Whether these risk factors could explain pathways from TL to CHD warrants further attention.Objective: To examine whether metabolic risk factors for CHD mediate the causal pathway from short TL to increased risk of CHD using a network Mendelian randomization design.Methods and Results: Summary statistics from several genome-wide association studies were used in a 2-sample Mendelian randomization study design. Network Mendelian randomization analysis - an approach using genetic variants as the instrumental variables for both the exposure and mediator to infer causality - was performed to examine the causal association between telomeres and CHD and metabolic risk factors. Summary statistics from the ENGAGE Telomere Consortium were used (n=37 684) as a TL genetic instrument, CARDIoGRAMplusC4D Consortium data were used (case=22 233 and control=64 762) for CHD, and other consortia data were used for metabolic traits (fasting insulin, triglyceride, total cholesterol, low-density lipoprotein cholesterol, fasting glucose, diabetes mellitus, glycohemoglobin, body mass index, waist circumference, and waist:hip ratio). One-unit increase of genetically determined TL was associated with -0.07 (95% confidence interval, -0.01 to -0.12; P=0.01) lower log-transformed fasting insulin (pmol/L) and 21% lower odds (95% confidence interval, 3-35; P=0.02) of CHD. Higher genetically determined log-transformed fasting insulin level was associated with higher CHD risk (odds ratio, 1.86; 95% confidence interval, 1.01-3.41; P=0.04).Conclusions: Overall, our findings support a role of insulin as a mediator on the causal pathway from shorter telomeres to CHD pathogenesis.
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| 6. |
- Abrahamson, Josefin, et al.
(författare)
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Horseback riding is common among female athletes who had arthroscopic treatment for femoroacetabular impingement syndrome
- 2021
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Ingår i: Translational Sports Medicine. - : Hindawi Limited. - 2573-8488. ; 4:4, s. 500-507
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Tidskriftsartikel (refereegranskat)abstract
- The purpose was to investigate pre-operative symptoms and types of sport in competitive athletes undergoing arthroscopic treatment for femoroacetabular impingement syndrome (FAIS), and to compare between genders. Competitive athletes planned for arthroscopic treatment for FAIS were included prospectively in a hip arthroscopy registry. A total of 1548 athletes were identified and 919 were included. Sporting activity and patient-reported outcome measures (PROMs), including HSAS, iHOT-12, and HAGOS, were recorded, pre-operatively. The study comprised 738 male and 181 female athletes (median age 25; interquartile range 20-32 years) who had undergone arthroscopic treatment for FAIS. The most common sports type performed by males were football (48%) and ice hockey (19%) and in females, football (25%) and horseback riding (22%). Females reported a significantly longer duration of symptoms (median 36 vs 24 months) and lower pre-operative scores for the iHOT-12 and all the HAGOS subscales, except for physical activity. In conclusion, horseback riding and football are almost equally common in female athletes, while football is by far the most common in male athletes, who underwent arthroscopic treatment for FAIS. Females had a longer duration of symptoms and a higher degree of self-reported symptoms and dysfunction prior to the hip arthroscopy.
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| 7. |
- Abrahamson, Josefin, et al.
(författare)
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Low rate of high-level athletes maintained a return to pre-injury sports two years after arthroscopic treatment for femoroacetabular impingement syndrome
- 2020
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Ingår i: Journal of Experimental Orthopaedics. - : Springer Science and Business Media LLC. - 2197-1153. ; 7:1
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: The aim was to investigate the rate of athletes still active at their pre-injury sports level two years after arthroscopic treatment for femoroacetabular impingement syndrome (FAIS), and examine this between different sports and gender, and its correlation to patient-reported outcome measures (PROMs). Method: High-level athletes planned for arthroscopic treatment for FAIS were included prospectively in a Swedish hip arthroscopy registry between 2011 and 2017, and 717 met the inclusion criteria. Self-reported sporting activity was recorded preoperatively. The subjects answered PROMs, including the HSAS, iHOT-12 and HAGOS pre- and postoperatively. Results: A total of 551 athletes (median age 26, interquartile range 20–34 years; 23% women) had completed follow-up PROMs, at mean 23.4 ± 7.2 months postoperatively. In total, 135 (24.5%) were active at their pre-injury level of sports at follow-up (RTSpre). Athletes ≤30 years at time of surgery (n = 366; median age 22 years) had higher rate of RTSpre (31.4%) compared with athletes > 30 years (n = 185; median age 40 years) (10.8%; p < 0.001). All athletes had improvements in iHOT-12 and HAGOS, two years postoperatively (p < 0.001), while RTSpre athletes reported significantly better PROMs, pre- and postoperatively, and had greater improvements two years postoperatively, compared with athletes not active at pre-injury level. Conclusion: Only 25% of all high-level athletes and 31% of athletes ≤30 years were still active at their pre-injury sports level two years after arthroscopic treatment for FAIS. Athletes still active had significantly and clinically greater improvement regarding hip symptoms, function and quality of life, as compared with athletes not active at pre-injury level, two years postoperatively. © 2020, The Author(s).
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| 8. |
- Ahlbeck Bergendahl, Ida, et al.
(författare)
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Fisk- och skaldjursbestånd i hav och sötvatten 2016 : Resursöversikt
- 2016
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- I rapporten kan du ta del av bedömningen som görs av situationen för bestånd som regleras inom ramen för EU:s gemensamma fiskeripolitik (GFP). Bedömningarna baseras på det forskningssamarbete och den rådgivning som sker inom det Internationella Havsforskningsrådet (ICES).De bestånd som förvaltas nationellt baseras på de biologiska underlagen, och rådgivningen i huvudsak på den forskning och övervakning samt analys som bedrivs av Institutionen för akvatiska resurser vid Sveriges lantbruksuniversitet (SLU Aqua) samt yrkesfiskets rapportering.Rapporten omfattar 41 fiskarter uppdelade i olika bestånd, samt sju skal- och blötdjursarter.Nytt för årets upplaga är kapitlet om ekosystemtjänster. Avsnittet beskriver de fördelar människan får genom ekosystemen, till exempel hur fisk och skaldjur kommer till nytta för människan genom föda, rekreation och biologisk mångfald. Nytt för i år är också att rapportens diagram och figurer anpassats för läsare med defekt färgseende.Översikten är utarbetad av SLU Aqua på uppdrag av Havs- och vattenmyndigheten.
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| 9. |
- Andresen, Camilla S., et al.
(författare)
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Sediment discharge from Greenland's marine-terminating glaciers is linked with surface melt
- 2024
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Ingår i: Nature Communications. - 2041-1723. ; 15:1
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Tidskriftsartikel (refereegranskat)abstract
- Sediment discharged from the Greenland Ice Sheet delivers nutrients to marine ecosystems around Greenland and shapes seafloor habitats. Current estimates of the total sediment flux are constrained by observations from land-terminating glaciers only. Addressing this gap, our study presents a budget derived from observations at 30 marine-margin locations. Analyzing sediment cores from nine glaciated fjords, we assess spatial deposition since 1950. A significant correlation is established between mass accumulation rates, normalized by surface runoff, and distance down-fjord. This enables calculating annual sediment flux at any fjord point based on nearby marine-terminating outlet glacier melt data. Findings reveal a total annual sediment flux of 1.324 + /- 0.79 Gt yr-1 over the period 2010-2020 from all marine-terminating glaciers to the fjords. These estimates are valuable for studies aiming to understand the basal ice sheet conditions and for studies predicting ecosystem changes in Greenland's fjords and offshore areas as the ice sheet melts and sediment discharge increase.
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| 10. |
- Arsın, Hasan, et al.
(författare)
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Exploring Codon Adjustment Strategies towards Escherichia coli-Based Production of Viral Proteins Encoded by HTH1, a Novel Prophage of the Marine Bacterium Hypnocyclicus thermotrophus
- 2021
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Ingår i: Viruses. - : MDPI AG. - 1999-4915. ; 13:7
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Tidskriftsartikel (refereegranskat)abstract
- Marine viral sequence space is immense and presents a promising resource for the discovery of new enzymes interesting for research and biotechnology. However, bottlenecks in the functional annotation of viral genes and soluble heterologous production of proteins hinder access to downstream characterization, subsequently impeding the discovery process. While commonly utilized for the heterologous expression of prokaryotic genes, codon adjustment approaches have not been fully explored for viral genes. Herein, the sequence-based identification of a putative prophage is reported from within the genome of Hypnocyclicus thermotrophus, a Gram-negative, moderately thermophilic bacterium isolated from the Seven Sisters hydrothermal vent field. A prophage-associated gene cluster, consisting of 46 protein coding genes, was identified and given the proposed name Hypnocyclicus thermotrophus phage H1 (HTH1). HTH1 was taxonomically assigned to the viral family Siphoviridae, by lowest common ancestor analysis of its genome and phylogeny analyses based on proteins predicted as holin and DNA polymerase. The gene neighbourhood around the HTH1 lytic cassette was found most similar to viruses infecting Gram-positive bacteria. In the HTH1 lytic cassette, an N-acetylmuramoyl-L-alanine amidase (Amidase_2) with a peptidoglycan binding motif (LysM) was identified. A total of nine genes coding for enzymes putatively related to lysis, nucleic acid modification and of unknown function were subjected to heterologous expression in Escherichia coli. Codon optimization and codon harmonization approaches were applied in parallel to compare their effects on produced proteins. Comparison of protein yields and thermostability demonstrated that codon optimization yielded higher levels of soluble protein, but codon harmonization led to proteins with higher thermostability, implying a higher folding quality. Altogether, our study suggests that both codon optimization and codon harmonization are valuable approaches for successful heterologous expression of viral genes in E. coli, but codon harmonization may be preferable in obtaining recombinant viral proteins of higher folding quality.
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