| 1. |
- Kanoni, Stavroula, et al.
(författare)
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Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
- 2022
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Ingår i: Genome biology. - : Springer Science and Business Media LLC. - 1474-760X .- 1465-6906 .- 1474-7596. ; 23:1
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Tidskriftsartikel (refereegranskat)abstract
- Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery.To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N = 1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3-5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism.Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk.
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| 2. |
- Smith, Jennifer A, et al.
(författare)
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Genome-wide association study identifies 74 loci associated with educational attainment
- 2016
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Ingår i: Nature (London). - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 533:7604, s. 539-542
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Tidskriftsartikel (refereegranskat)abstract
- Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.
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| 4. |
- Lemmens, Robin, et al.
(författare)
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The association of the 4q25 susceptibility variant for atrial fibrillation with stroke is limited to stroke of cardioembolic etiology.
- 2010
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Ingår i: Stroke; a journal of cerebral circulation. - 1524-4628. ; 41:9, s. 1850-7
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND AND PURPOSE: Genome-wide association studies recently identified 2 variants on chromosome 4q25 as susceptibility factors for atrial fibrillation. Interestingly, these variants were subsequently also shown to be associated with stroke. However, it remains unclear whether 4q25 associates with all the stroke subtypes or with cardioembolic stroke in particular, which is often attributable to atrial fibrillation. METHODS: We performed a large case-control association study in 4199 ischemic stroke patients, all subtyped according to Trial of Org 10172 in Acute Stroke Treatment criteria, and 3750 controls derived from 6 studies conducted in Australia, Austria, Belgium, Poland, Spain, and Sweden. Two variants on chromosome 4q25, rs1906591 and rs10033464, were genotyped. RESULTS: Within cases, the A-allele of rs1906591 was associated with atrial fibrillation (odds ratio, 1.64 [95% CI, 1.43 to 1.90]; P=9.2 . 10(-12)), whereas rs10033464 was only marginally associated. There was an association between overall ischemic stroke and rs1906591 (odds ratio, 1.20 [95% CI, 1.09 to 1.32]; P=1.2 . 10(-4)). However, this was probably caused by the large effect of stroke of cardioembolic etiology because no relation was obtained in any other subgroup of stroke. The rs10033464 variant failed to show any relationship with ischemic stroke. CONCLUSIONS: We replicated the association of the rs1906591 variant on chromosome 4q25 with atrial fibrillation and ischemic stroke of cardioembolic etiology. The 4q25 locus failed to associate with noncardiac subtypes of ischemic stroke.
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| 5. |
- Pattaro, Cristian, et al.
(författare)
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Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.
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| 6. |
- Schmidt Burg, Helena, 1992, et al.
(författare)
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Litteraturöversikter med AI: En pedagogisk resa för studenter, lärare och bibliotekarier
- 2023
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Ingår i: Nätverksträffen för Forskningsbibliotekens pedagogiska roll.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Vad händer när studenterna inte själva söker upp, väljer ut och sammanfattar litteratur utan istället låter en AI-tjänst göra det? Vilken kunskap behöver studenterna ha för att åstadkomma goda och tillförlitliga sammanfattningar och tolkningar av litteraturen med hjälp av AI-baserade tjänster? Vilken blir vår roll som bibliotekarier i processen och hur kan vi bäst stötta studenterna i en etisk användning av tjänsterna? Vad innebär förändringarna för vad vår undervisning ska innehålla och hur den ska planeras? Kom och utforska dessa frågor i en workshop där vi testar och diskuterar olika AI-verktyg tillsammans.
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| 7. |
- Schmidt Burg, Helena, 1992, et al.
(författare)
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Litteraturöversikter med AI: En pedagogisk resa för studenter och lärare
- 2023
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Ingår i: Högskolepedagogisk konferens i Göteborg (HKG 2023).
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Debatten kring hur högre utbildning ska förhålla sig till olika tjänster som baseras på generativ AI har tagit fart sen lanseringen av ChatGPT i november 2022. Inte minst uppmärksammad är problematiken med att avgöra om texter speglar studentens lärande av det som ska examineras (t.ex. Linderoth, 2023; Weber-Wulff et al. 2023). En vanlig examinationsuppgift är att skriva någon form av litteraturöversikt, en uppgift som ofta innefattar att söka fram, välja ut och sammanfatta vetenskaplig litteratur och att utifrån denna genomföra en egen analys eller tolkning. Detta är en uppgift som AI-baserade tjänster blir allt bättre på att utföra, inklusive att föreslå referenser för att backa upp påståenden i texten. I förlängningen leder detta till att vi behöver fundera på vad som lärs vid användning av AI-tjänster jämfört med mer traditionella metoder för litteraturöversikter. Vad händer när studenterna inte själva söker upp, väljer ut och sammanfattar, utan istället låter en AI-tjänst göra det? Vilken kunskap behöver studenterna ha för att åstadkomma goda och tillförlitliga sammanfattningar och tolkningar av litteraturen med hjälp av AI-baserade tjänster? Vilka är våra roller som lärare och som bibliotekarier i processen? Workshoppen fokuserar på att prova att skapa en litteraturöversikt med stöd av någon AI-baserad tjänst och att diskutera erfarenheter av resultaten. Exempel hämtas från deltagarnas egna områden och erfarenheter. Workshoppens genomförande 1. Inledning samt kort presentation av ett urval AI-tjänster 2. Deltagarna testar verktygen och skapar begränsade litteraturöversikter med hjälp av en eller flera AI-tjänster. 3. Resultaten som genererats av de olika AI-tjänsterna jämförs med varandra och en diskussion förs kring implikationerna av att studenterna använder tjänsterna i utbildningen. Workshoppen riktar sig till - universitetslärare som hanterar någon form av uppgift som inkluderar litteraturöversikter - universitetslärare som är intresserade av de förändringar som AI-baserade tekniker får för högre utbildning - undervisande bibliotekarier Referenser Linderoth, J. (2023-06-08). Varför vi inte längre kan ha skrivna hemuppgifter i högre utbildning. YouTube.com https://www.youtube.com/watch?v=GZOSh4ocpeI (visad 2023-06-30) Weber-Wulff, D., Anohina-Naumeca, A., Bjelobaba, S., Foltýnek, T., Guerrero-Dib, J., Popoola, O., Šigut, P., & Waddington, L. (2023). Testing of Detection Tools for AI�Generated Text (arXiv:2306.15666). arXiv. https://doi.org/10.48550/arXiv.2306.1566
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| 8. |
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- 2019
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Tidskriftsartikel (refereegranskat)
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| 9. |
- Bjur, Louise, 1973, et al.
(författare)
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Söksnurran: få koll på din informationssökningsprocess
- 2023
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Ingår i: Nätverksträffen för Forskningsbibliotekens pedagogiska roll.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Det finns många olika modeller av hur informationssökningsprocessen kan illustreras och förstås. Ofta stannar det med att den endast presenteras av bibliotekarier i undervisningen eller i digitala lärresurser. Vi vill visa och berätta om hur vi 1. har skapat en ny modell av informationssökningsprocessen 2. och hur vi integrerat denna i vår ALC-undervisning 3. och varför den är bättre än alla andra Kom och var med på denna workshop, så får du själv prova på att jobba processinriktat med söksnurran!
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| 10. |
- Drivelegka, Panagiota, et al.
(författare)
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Association between serum level of urate and subclinical atherosclerosis: results from the SCAPIS Pilot
- 2020
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Ingår i: Arthritis Research & Therapy. - : Springer Science and Business Media LLC. - 1478-6354 .- 1478-6362. ; 22
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Tidskriftsartikel (refereegranskat)abstract
- Background Hyperuricemia is closely associated with cardiovascular disease (CVD). However, it has not been definitively established whether this association is independent of traditional cardiovascular risk factors (CVRFs) and whether it is gender-dependent. The aim of this study was to investigate in a population-based cohort (age range, 50-64 years) stratified by sex the association between the serum urate (SU) concentration and subclinical atherosclerosis, as reflected in the coronary artery calcification (CAC) score, common carotid intima-media thickness (CIMT), and carotid plaque score. Methods The study involved participants in the Swedish CArdioPulmonary bioImage Study (SCAPIS) Pilot cohort (N = 1040; 48.8% males). This pilot cohort is part of the large population-based SCAPIS with 30,000 participants in the age range of 50-64 years, aimed at improving risk prediction for CVD. Subjects with a self-reported previous history of CVD (N = 68) or gout (N = 3) were excluded. The CAC score was assessed with the Agatston method using computed tomography. CIMT and carotid plaques were quantified by ultrasound. The associations between the SU quartiles and different levels of CAC, CIMT, and carotid plaques were assessed by multivariable logistic regression. Results Age, BMI, education level, smoking, physical activity, hs-CRP, hypertension, and dyslipidemia showed no differences between males and females, while CAC (score > 0) and diabetes were both twice as common in men than in women (58% vs 26% and 8% vs 4%, respectively). Higher SU quartiles were in both sexes associated with BMI, hs-CRP, and the prevalence of hypertension, and in women, they were also associated with the prevalence of dyslipidemia. The three upper quartiles of SU (>308 mu mol/L) were linked to higher CAC scores in men, when adjusting for CVRFs, but not in women. CIMT and carotid plaques showed no correlation to SU in either sex. Conclusions Higher levels of SU are associated with the presence of CAC in men but not in women, whereas SU is not associated with CIMT or carotid plaques in either men or women. This implies that the biological effects of SU differ in men and women or that SU has varying effects on different vascular beds or during the different stages of the atherosclerotic process.
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