| 1. |
- Sampson, Joshua N., et al.
(författare)
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Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for 13 Cancer Types
- 2015
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Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 0027-8874 .- 1460-2105. ; 107:12
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Tidskriftsartikel (refereegranskat)abstract
- Background: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites. Methods: Between 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers. Results: GWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, h(l)(2), on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (rho = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (rho = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (rho = 0.51, SE = 0.18), and bladder and lung (rho = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures. Conclusion: Our results provide important insights into the genetic architecture of cancers and suggest new avenues for investigation.
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| 2. |
- Wang, Zhaoming, et al.
(författare)
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Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33
- 2014
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 23:24, s. 6616-6633
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have mapped risk alleles for at least 10 distinct cancers to a small region of 63 000 bp on chromosome 5p15.33. This region harbors the TERT and CLPTM1L genes; the former encodes the catalytic subunit of telomerase reverse transcriptase and the latter may play a role in apoptosis. To investigate further the genetic architecture of common susceptibility alleles in this region, we conducted an agnostic subset-based meta-analysis (association analysis based on subsets) across six distinct cancers in 34 248 cases and 45 036 controls. Based on sequential conditional analysis, we identified as many as six independent risk loci marked by common single-nucleotide polymorphisms: five in the TERT gene (Region 1: rs7726159, P = 2.10 × 10(-39); Region 3: rs2853677, P = 3.30 × 10(-36) and PConditional = 2.36 × 10(-8); Region 4: rs2736098, P = 3.87 × 10(-12) and PConditional = 5.19 × 10(-6), Region 5: rs13172201, P = 0.041 and PConditional = 2.04 × 10(-6); and Region 6: rs10069690, P = 7.49 × 10(-15) and PConditional = 5.35 × 10(-7)) and one in the neighboring CLPTM1L gene (Region 2: rs451360; P = 1.90 × 10(-18) and PConditional = 7.06 × 10(-16)). Between three and five cancers mapped to each independent locus with both risk-enhancing and protective effects. Allele-specific effects on DNA methylation were seen for a subset of risk loci, indicating that methylation and subsequent effects on gene expression may contribute to the biology of risk variants on 5p15.33. Our results provide strong support for extensive pleiotropy across this region of 5p15.33, to an extent not previously observed in other cancer susceptibility loci.
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| 3. |
- Abata, E., et al.
(författare)
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Study of energy response and resolution of the ATLAS barrel calorimeter to hadrons of energies from 20 to 350 GeV
- 2010
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Ingår i: Nuclear Instruments and Methods in Physics Research Section A. - : Elsevier. - 0168-9002 .- 1872-9576 .- 0167-5087. ; 621:1-3, s. 134-150
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Tidskriftsartikel (refereegranskat)abstract
- A fully instrumented slice of the ATLAS detector was exposed to test beams from the SPS (Super Proton Synchrotron) at CERN in 2004. In this paper, the results of the measurements of the response of the barrel calorimeter to hadrons with energies in the range 20-350 GeV and beam impact points and angles corresponding to pseudo-rapidity values in the range 0.2-0.65 are reported. The results are compared to the predictions of a simulation program using the Geant 4 toolkit. (C) 2010 Published by Elsevier B.V.
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| 4. |
- Andersson, Alfred, et al.
(författare)
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Evaluating a Mobility Service Application for Business Travel: Lessons Learnt from a Demonstration Project
- 2020
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Ingår i: Sustainability (Switzerland). - : MDPI AG. - 2071-1050. ; 12:3, s. 1-18
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Tidskriftsartikel (refereegranskat)abstract
- Business travel contributes to significant greenhouse gas emissions, and there is a need for measures that reduce the demand for trips made with energy-intensive means of transport. In this study, a mobility service application (MSA) introduced in 13 Swedish organisations was tested and evaluated to facilitate booking and handling of business trips, in particular public transport. A before and after study consisting of surveys and interviews with employees at the organisations were conducted. The results show that the MSA was mostly used for regional and local public transport trips, and the users stated that the MSA made it easier to travel by public transport, although this particular result should be seen as tentative due to the small sample size. Three factors that influence the success of a new MSA as a means to increase sustainable business trips were identified: management control and proactiveness; perceived improvement of intervention; functions and technical sufficiency. The results also highlight the need to establish organisational conditions that facilitate sustainable business travel, such as coherent travel policy, accessibility to sustainable modes of transport, and a culture that encourages environmentally friendly behaviour. The study suggests improvements that can be made to similar interventions and strategies that can be introduced to promote sustainable business travel.
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| 5. |
- Bentley, Michael J., et al.
(författare)
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A community-based geological reconstruction of Antarctic Ice Sheet deglaciation since the Last Glacial Maximum
- 2014
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Ingår i: Quaternary Science Reviews. - : Elsevier BV. - 0277-3791 .- 1873-457X. ; 100, s. 1-9
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Tidskriftsartikel (refereegranskat)abstract
- A robust understanding of Antarctic Ice Sheet deglacial history since the Last Glacial Maximum is important in order to constrain ice sheet and glacial-isostatic adjustment models, and to explore the forcing mechanisms responsible for ice sheet retreat. Such understanding can be derived from a broad range of geological and glaciological datasets and recent decades have seen an upsurge in such data gathering around the continent and Sub-Antarctic islands. Here, we report a new synthesis of those datasets, based on an accompanying series of reviews of the geological data, organised by sector. We present a series of timeslice maps for 20 ka, 15 ka, 10 ka and 5 ka, including grounding line position and ice sheet thickness changes, along with a clear assessment of levels of confidence. The reconstruction shows that the Antarctic Ice sheet did not everywhere reach the continental shelf edge at its maximum, that initial retreat was asynchronous, and that the spatial pattern of deglaciation was highly variable, particularly on the inner shelf. The deglacial reconstruction is consistent with a moderate overall excess ice volume and with a relatively small Antarctic contribution to meltwater pulse la. We discuss key areas of uncertainty both around the continent and by time interval, and we highlight potential priorities for future work. The synthesis is intended to be a resource for the modelling and glacial geological community.
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| 6. |
- Berg, Johanna, et al.
(författare)
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OpenChart-SE: A corpus of artificial Swedish electronic health records for imagined emergency care patients written by physicians in a crowd-sourcing project
- 2023
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- Electronic health records (EHRs) are a rich source of information for medical research and public health monitoring. Information systems based on EHR data could also assist in patient care and hospital management. However, much of the data in EHRs is in the form of unstructured text, which is difficult to process for analysis. Natural language processing (NLP), a form of artificial intelligence, has the potential to enable automatic extraction of information from EHRs and several NLP tools adapted to the style of clinical writing have been developed for English and other major languages. In contrast, the development of NLP tools for less widely spoken languages such as Swedish has lagged behind. A major bottleneck in the development of NLP tools is the restricted access to EHRs due to legitimate patient privacy concerns. To overcome this issue we have generated a citizen science platform for collecting artificial Swedish EHRs with the help of Swedish physicians and medical students. These artificial EHRs describe imagined but plausible emergency care patients in a style that closely resembles EHRs used in emergency departments in Sweden. In the pilot phase, we collected a first batch of 50 artificial EHRs, which has passed review by an experienced Swedish emergency care physician. We make this dataset publicly available as OpenChart-SE corpus (version 1) under an open-source license for the NLP research community. The project is now open for general participation and Swedish physicians and medical students are invited to submit EHRs on the project website (https://github.com/Aitslab/openchart-se). Additional batches of quality-controlled EHRs will be released periodically.
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| 7. |
- Berg, Jessica, et al.
(författare)
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Unga på moped : en studie av riskgrupper och riktade polisinsatser för att motverka trimning
- 2008
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Unrestricted or so-called trimmed mopeds and speeding are experienced as an increasing traffic safety problem. There is a risk of an increased number of seriously injured and casualties among adolescents as a consequence of the increased number of mopeds found in traffic today and the higher speeds they are driven at. One common police action to reduce trimming is to follow the moped riders who are suspected of altering their vehicles. This can lead to "chase situations" which increase the risk to both moped riders and fellow road-users. One purpose of this report is to study the effects of an alternative way of working with the moped problems by the police in four different towns and by interviews, observations and a questionnaire study broaden our knowledge about attitudes to moped riding and trimming among youths. The results showed that the efforts of the police in the experiment towns had not had any effect on the attitudes and the points of view of the youths towards traffic safety. One possible reason for this is that the method used is too new and that it was not extensive enough. Parents have an effect on the attitude of the youths towards trimming. The parents of those who trim seem to have a more tolerant attitude towards trimming. The results from the questionnaire study show that those that had driven but do not a moped but did not have av moped of their own, as well as those who have a trimmed moped of their own were more positive towards taking risks in traffic, would consider driving at faster speeds and had more experience of traffic offenses. In addition, they are of the opinion that parents, friends and fellow roadusers find it acceptable to exceed the speed limits. Furthermore, these two groups were not as involved in organised leisure activities as the other two groups, their parents were not as strict, grades were not considered as important and they indicated to a greater degree that attending school is difficult or boring. Based on this study, it can be concluded that trimming is not an isolated behaviour but related to a certain lifestyle. In order to reduce trimming an increased understanding of those mechanisms which determine the behaviour of the target groups are needed as well as improved methods to detect trimming. Qualitative studies could be used to discuss the problem with parents, youths and those living in special residential areas where the problem is experienced as being widespread. It might also be interesting to analyse incoming calls/complaints to police communication centres and evaluate the effects police work has on the number of trimmed mopeds over a period of time.
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| 8. |
- Dimitrakopoulou, Vasiliki I., et al.
(författare)
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Interactions between genome-wide significant genetic variants and circulating concentrations of 25-Hydroxyvitamin D in relation to prostate cancer risk in the National Cancer Institute BPC3
- 2017
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Ingår i: American Journal of Epidemiology. - : Oxford University Press (OUP). - 0002-9262 .- 1476-6256. ; 185:6, s. 452-464
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have identified over 100 single nucleotide polymorphisms (SNPs) associated with prostate cancer. However, information on the mechanistic basis for some associations is limited. Recent research has been directed towards the potential association of Vitamin D concentrations and prostate cancer, but little is known about whether the aforementioned genetic associations are modified by Vitamin D. We investigated the associations of 46 GWAS-identified SNPs, circulating concentrations of 25-hydroxyVitamin D (25 (OH)D), and prostate cancer (3,811 cases, 511 of whom died from the disease, compared with 2,980 controls- from 5 cohort studies that recruited participants over several periods beginning in the 1980s). We used logistic regression models with data from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3) to evaluate interactions on the multiplicative and additive scales. After allowing for multiple testing, none of the SNPs examined was significantly associated with 25(OH)D concentration, and the SNP-prostate cancer associations did not differ by these concentrations. A statistically significant interaction was observed for each of 2 SNPs in the 8q24 region (rs620861 and rs16902094), 25(OH)D concentration, and fatal prostate cancer on both multiplicative and additive scales (P ≥ 0.001). We did not find strong evidence that associations between GWASidentified SNPs and prostate cancer are modified by circulating concentrations of 25(OH)D. The intriguing interactions between rs620861 and rs16902094, 25(OH)D concentration, and fatal prostate cancer warrant replication.
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| 9. |
- Forward, Sonja, et al.
(författare)
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En utvärdering av den utökade riskutbildningen för B-körkort : delstudie 4
- 2010
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Den 1 juli 1999 ersattes den traditionella halkutbildningen med en ny, utökad riskutbildning för B-körkort. Målet var att lägga mer tonvikt på riskmedvetenhet, förutseende körsätt och insikt om egna begränsningar. Syftet med föreliggande rapport är att redovisa resultatet från en utvärdering som genomfördes före och efter genomförandet av den nya utbildningen. Studien genomfördes som en enkätstudie och målgruppen var nyblivna körkortstagare mellan 18 och 24 år. Resultaten baseras på 1 403 personer. Resultaten visar att deltagarna i efterstudien angav att de under utbildningen lärt sig mer om alkohol/droger och trötthet än deltagarna i förstudien. De ansåg också att de lärt sig mindre om körning på halt väglag, ABS-bromsar och antisladdsystem. Resultaten från kunskapsfrågorna visar att deltagarna i efterstudien hade en bättre kunskap om promillegräns för rattfylleri, krockvåld och ABS-bromsar. Deras inställning till trötthet och bilkörning förändrades. I viss mån var man också mer medveten om vad man borde göra för att motverka trötthet men man förespråkade fortfarande några felaktiga strategier. I likhet med deltagarnas inställning ändrades även deras intentioner men tyvärr inte alltid i rätt riktning. Sammanfattningsvis visar resultaten att de deltagare som genomgått den utökade riskutbildningen fått ökad kunskap och en trafiksäkrare inställning även om detta inte alltid avspeglade sig i en mera trafiksäker intention.
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| 10. |
- Forward, Sonja, 1956-, et al.
(författare)
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Kombinerad mobilitet för hållbara tjänsteresor
- 2020
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Syftet med studien var att uppnå ett mer hållbart tjänsteresande genom att demonstrera och utvärdera en ny tjänst för kombinerad mobilitet för tjänsteresor. Ett annat syfte var att undersöka hur tjänsteresor inklusive resfria möten (dvs. virtuella möten som sker på distans) genomförs i organisationer och vad som påverkar val av transporter. I studien ingick en processutvärdering, en intervjustudie och en effektutvärdering. Intervjustudien, som bygger på intervjuer och fokusgrupper med 38 personer från 12 organisationer, visade att man rent allmänt var nöjd med rese-appen och kunde se fördelarna med att använda en sådan. De som var mindre nöjda ansåg att tekniken inte fungerade fullt ut. Svaren från enkätstudien visade att även om deltagarna var nöjda använde de den inte regelbundet utan mest då de skulle göra regionala resor. Detta innebar att färre använt appen för lokala bussresor och långväga tågresor vilket kan bero på att de hade egna resekort och avtal med en resebyrå. Detta stöds även av processutvärderingen som visade att lanseringen av appen var svårare än man förväntat sig, vilket många gånger berodde på att organisationerna hade egna lösningar. I effektutvärderingen jämfördes även svaren från de som använt och de som inte använt rese-appen. Resultatet visade att gruppen som använt appen ansåg att det blivit mindre besvärligt att resa med buss jämfört med svaren i förstudien. Någon liknande förändring hade inte skett i kontrollgruppen. På frågor om resfria möten ansåg ungefär hälften att det var lätt eller mycket lätt att ordna ett sådant möte. Anledningen till att man inte utnyttjade denna möjligt var att man kände sig osäker på hur tekniken skulle hanteras. Resultaten visade att det fanns en potential att ersätta ca en femtedel av tjänsteresorna med resfria möten. En viktig slutsats från studien var att utformningen av appen fungerade bra men att utbudet i egna kanaler som man redan använder inte får skilja sig för mycket med appen. Om appen sedan ökar användningen av mera hållbara transporter behöver undersökas ytterligare över en längre tid och med en större grupp.
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