| 1. |
- Andersson, Anna, et al.
(författare)
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Microarray-based classification of a consecutive series of 121 childhood acute leukemias: prediction of leukemic and genetic subtype as well as of minimal residual disease status.
- 2007
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Ingår i: Leukemia. - : Springer Science and Business Media LLC. - 1476-5551 .- 0887-6924. ; 21:6, s. 1198-1203
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Tidskriftsartikel (refereegranskat)abstract
- Gene expression analyses were performed on 121 consecutive childhood leukemias (87 B-lineage acute lymphoblastic leukemias (ALLs), 11 T-cell ALLs and 23 acute myeloid leukemias (AMLs)), investigated during an 8-year period at a single center. The supervised learning algorithm k-nearest neighbor was utilized to build gene expression predictors that could classify the ALLs/AMLs according to clinically important subtypes with high accuracy. Validation experiments in an independent data set verified the high prediction accuracies of our classifiers. B-lineage ALLs with uncharacteristic cytogenetic aberrations or with a normal karyotype displayed heterogeneous gene expression profiles, resulting in low prediction accuracies. Minimal residual disease status (MRD) in T-cell ALLs with a high (40.1%) MRD at day 29 could be classified with 100% accuracy already at the time of diagnosis. In pediatric leukemias with uncharacteristic cytogenetic aberrations or with a normal karyotype, unsupervised analysis identified two novel subgroups: one consisting mainly of cases remaining in complete remission (CR) and one containing a few patients in CR and all but one of the patients who relapsed. This study of a consecutive series of childhood leukemias confirms and extends further previous reports demonstrating that global gene expression profiling provides a valuable tool for genetic and clinical classification of childhood leukemias.
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| 2. |
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| 3. |
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Historien, barnen och barndomarna. Vad är problemet? : En vänbok till Bengt Sandin
- 2009
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Samlingsverk (redaktörskap) (övrigt vetenskapligt/konstnärligt)abstract
- Barndomen som den ter sig i ett bestämt samhälle är aldrig socialt och kulturellt neutral. Den är alltid en konsekvens av kulturella, politiska och sociala krafters samverkan. Barndomen skapas – en del skulle säga konstrueras – av politiska, sociala och kulturella förhållanden, av bestämda historiska förhållanden. Vid sekelskiftet 1900 stod barn och ungdomar i centrum för en livlig offentlig debatt. De sågs som ett påtagligt orosmoment på gator och torg och man klagade över föräldrarnas försummelser. Debatten reser en rad frågor rörande barnens roll i samhället. Var barnen verkligen så vanartade som ofta hävdades, och vad var det för brottslighet man var så räddför? Vilka sociala krafter låg bakom skräckvisionerna av ett samhälle inför sitt sammanbrott? Det är viktigt att de historiska förutsättningarna för engagemanget i barnens villkor klargöres. Sådana studier är viktiga eftersom debatter om barn och ungdomars villkor aktualiseras också i våra dagar. Ofta sker detta med jämförbara termer, begrepp och problemställningar. Vid sekelskiftet fördes diskussionen i termer vi känner igen från dagens Sverige; familjens kris och hemmens otillräcklighet, skolans brister, ungdomens agerande i offentliga miljöer och en ökande kriminalitet. Då som idag aktualiseras behovet av fler institutioner för det uppväxande släktet, familjestöd och rådgivning, samt behovet av skolreformer. Det är därför en central uppgift att klargöra under vilka betingelser och förutsättningar barn uppmärksammas sompolitiska och sociala problem.
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| 4. |
- Holmkvist, Johan, et al.
(författare)
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Common variants in maturity-onset diabetes of the young genes and future risk of type 2 diabetes
- 2008
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Ingår i: Diabetes. - : American Diabetes Association. - 1939-327X .- 0012-1797. ; 57:6, s. 1738-1744
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE-Mutations in the hepatocyte nuclear factor (HNF)-1 alpha, HNF-4 alpha, glucokinase (GCK), and HNF-1 beta genes cause maturity-onset diabetes of the young (MODY), but it is not known whether common variants in these genes predict future type 2 diabetes. RESEARCH DESIGN AND METHODS-We tested 14 previously associated polymorphisms in HNF-1 alpha, HNF-4 alpha, GCK, and HNF-1 beta for association with type 2 diabetes-related traits and future risk of type 2 diabetes in 2,293 individuals from the Botnia study (Finland) and in 15,538 individuals from the Malmo Preventive Project (Sweden) with a total follow-up >360,000 years. RESULTS-The polymorphism rs1169288 in HNF-1 alpha strongly predicted future type 2 diabetes (hazard ratio [HR] 1.2, P = 0.0002). Also, SNPs rs4810424 and rs3212198 in HNF-4a nominally predicted future type 2 diabetes (HR 1.3 [95% CI 1.0-1.6], P = 0.03; and 1.1 [1.0-1.2], P = 0.04). The rs2144908 polymorphism in HNF-4 alpha was associated with elevated rate of hepatic glucose production during a hyperinsulinemic-euglycemic clamp (P = 0.03) but not with deterioration of insulin secretion over time. The SNP rs1799884 in the GCK promoter was associated with elevated fasting plasma glucose (fPG) concentrations that remained unchanged during the follow-up period (P = 0.4; SE 0.004 [-0.003-0.007]) but did not predict future type 2 diabetes (HR 0.9 [0.8 -1.0], P = 0.1). Polymorphisms in HNF-1 beta (transcription factor 2 [TCF2]) did not significantly influence insulin or glucose values nor did they predict future type 2 diabetes. CONCLUSIONS-In conclusion, genetic variation in both HNF-1 alpha and HNF-4 alpha predict future type 2 diabetes, whereas variation in the GCK promoter results in a sustained but subtle elevation of fPG that is not sufficient to increase risk for future type 2 diabetes.
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| 5. |
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| 6. |
- Jarvis, Åsa, et al.
(författare)
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Activity and composition of ammonia oxidizing bacterial communities and emission dynamics of NH3 and N2O in a compost reactor treating organic household waste
- 2009
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Ingår i: JOURNAL OF APPLIED MICROBIOLOGY. - : Oxford University Press (OUP). - 1364-5072 .- 1365-2672. ; 106:5, s. 1502-1511
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Tidskriftsartikel (refereegranskat)abstract
- To monitor emissions of NH3 and N2O during composting and link these to ammonia oxidation rates and the community structure of ammonia oxidizing bacteria (AOB). A laboratory-scale compost reactor treating organic household waste was run for 2 months. NH3 emissions peaked when pH started to increase. Small amounts of N2O and CH4 were also produced. In total, 16% and less than 1% of the initial N was lost as NH3-N and N2O-N respectively. The potential ammonia oxidation rate, determined by a chlorate inhibition assay, increased fourfold during the first 9 days and then remained high. Initially, both Nitrosospira and Nitrosomonas populations were detected using DGGE analysis of AOB specific 16S rRNA fragments. Only Nitrosomonas europaea was detected under thermophilic conditions, but Nitrosospira populations re-established during the cooling phase. Thermophilic conditions favoured high potential ammonia oxidation rates, suggesting that ammonia oxidation contributed to reduced NH3 emissions. Small but significant amounts of N2O were emitted during the thermophilic phase. The significance of different AOBs detected in the compost for ammonia oxidation is not clear. This study shows that ammonia oxidation occurs at high temperature composting and therefore most likely reduces NH3 emissions.
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| 7. |
- Klinth, Roger, 1964-, et al.
(författare)
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Progression i en bolognaanpassad utbildning
- 2009. - 1
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Ingår i: Ett år med Bologna - vad har hänt vid LiU?. - Linköping : Centrum för undervisning och lärande, Linköpings universitet. - 9789173935807 ; , s. 149-
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 8. |
- Lahermo, P, et al.
(författare)
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A quality assessment survey of SNP genotyping laboratories
- 2006
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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 27:7, s. 711-714
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- To survey the quality of SNP genotyping, a joint Nordic quality assessment (QA) round was organized between 11 laboratories in the Nordic and Baltic countries. The QA round involved blinded genotyping of 47 DNA samples for 18 or six randomly selected SNPs. The methods used by the participating laboratories included all major platforms for small- to medium-size SNP genotyping. The laboratories used their standard procedures for SNP assay design, genotyping, and quality control. Based on the joint results from all laboratories, a consensus genotype for each DNA sample and SNP was determined by the coordinator of the survey, and the results from each laboratory were compared to this genotype. The overall genotyping accuracy achieved in the survey was excellent. Six laboratories delivered genotype data that were in full agreement with the consensus genotype. The average accuracy per SNP varied from 99.1 to 100% between the laboratories, and it was frequently 100% for the majority of the assays for which SNP genotypes were reported. Lessons from the survey are that special attention should be given to the quality of the DNA samples prior to genotyping, and that a conservative approach for calling the genotypes should be used to achieve a high accuracy.
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| 9. |
- Larsson, Cecilia, et al.
(författare)
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Measurement and modeling of residual stress in a welded Haynes® 25 cylinder
- 2005
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Ingår i: Materials Science & Engineering. - : Elsevier BV. - 0921-5093 .- 1873-4936. ; 399:1-2, s. 49-57
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Tidskriftsartikel (refereegranskat)abstract
- An experimental and simulation study of residual stresses was made in the vicinity of a gas tungsten arc weld, used to join a hemispherical end cap to a cylinder. The capped cylinder is used in a satellite application and was fabricated from a Co-based Haynes® 25 alloy. The cylinder was 34.7 mm in outer diameter and 3.3 mm in thickness. The experimental measurements were made by neutron diffraction and the simulation used the implicit Marc finite element code. The experimental resolution was limited to approximately 3 mm parallel to the axis of the cylinder (the weld was 6 mm in the same direction) and comparison over the same volume of the finite element prediction showed general agreement. Subject to the limited spatial resolution, the largest experimentally measured tensile residual stress was 180 MPa, located at the middle of the weld. However, the predictions suggest that there are regions in the weld where average tensile residual stresses as much as 400 MPa exist. One qualitative disparity between the model and the experiments was that the measurement included a larger degree of asymmetry on either side of the weld than predicted by the model.
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| 10. |
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| 11. |
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| 12. |
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| 13. |
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| 14. |
- Lindgren, Cecilia, 1969-
(författare)
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En riktig familj : Adoption, föräldraskap och barnets bästa 1917-1975
- 2006
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- When a family comes into existence through adoption, the state has a crucial influence. Adoption therefore gives a unique opportunity to study a societal vision of the good family. That is the point of departure for “A Real Family”. The study spans the period from 1917, when the first Adoption Act was passed, to 1975, when international adoption was established. Three periods – the 1920s, the 1950s, and the 1970s – have been studied in detail. The investigation concerns the policy on adoption matters, handbooks for officials administering adoption cases, and the handling of adoption cases in Stockholm.Adoption has been studied as a historical, societal phenomenon, and the focus has been on the public regulation of family formation. Through the principle of “the child’s best interest”, the control of family formation has been distinct, but simultaneously indistinct, since the meaning of the concept has always been open to interpretation. Through an analysis of the meanings ascribed to “the child’s best interest”, it has been possible to reveal the norms for adoption. The idea has served as the key to adoption’s “rules for realness”, i. e. the often implicit criteria that define what “a real family” is.In the 1920s, what gave the adoptive family legitimacy was the will to assume responsibility for the child. Parents’ involvement and devotion distinguished a family. In the 1950s a real family was a normal family, a “typical” family in a normative sense. The adoptive family had to correspond to an ideal version of the biologically based family. The establishment of normality as a “rule for realness” depended on the reinterpretation of the meaning of adoption, which became clear with the introduction of full adoption in 1958. The adoptive family, which had previously been a supplementary family, became instead a replacement family, and social relations could fully take the place of biology as a basis for family ties. At the start of the 1970s a real family was an open and social family. It was supposed to be a platform for the child who was to acquire a place of its own in society. The “rules for realness” within adoption policy and practice, during the studied period, can thus be defined as devotion normality sociality.
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| 15. |
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| 16. |
- Lindgren, Cecilia M, et al.
(författare)
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Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.
- 2009
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Ingår i: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 5:6, s. e1000508-
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Tidskriftsartikel (refereegranskat)abstract
- To identify genetic loci influencing central obesity and fat distribution, we performed a meta-analysis of 16 genome-wide association studies (GWAS, N = 38,580) informative for adult waist circumference (WC) and waist-hip ratio (WHR). We selected 26 SNPs for follow-up, for which the evidence of association with measures of central adiposity (WC and/or WHR) was strong and disproportionate to that for overall adiposity or height. Follow-up studies in a maximum of 70,689 individuals identified two loci strongly associated with measures of central adiposity; these map near TFAP2B (WC, P = 1.9x10(-11)) and MSRA (WC, P = 8.9x10(-9)). A third locus, near LYPLAL1, was associated with WHR in women only (P = 2.6x10(-8)). The variants near TFAP2B appear to influence central adiposity through an effect on overall obesity/fat-mass, whereas LYPLAL1 displays a strong female-only association with fat distribution. By focusing on anthropometric measures of central obesity and fat distribution, we have identified three loci implicated in the regulation of human adiposity.
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| 17. |
- Lindgren, Cecilia, 1969-, et al.
(författare)
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Progression i en bolognaanpassad lärarutbildning
- 2009
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Ingår i: Ett år med Bologna - vad har hänt vid LiU?. - Linköping : Centrum för undervisning och lärande, Linköpings universitet. - 9789173935807 ; , s. 15-34
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Utbildningen vid svenska universitet och högskolor är mitt uppe i en förändringsprocess, en anpassning till den så kallade Bolognamodellen. Denna innebär tydligare och fastare ramar för utbildningen, både när det gäller organisation och utbildningsideologi. I denna process gäller emellertid särskilda villkor för yrkesutbildningarna. Dessa skall anpassas till de gemensamma ramarna, men ges samtidigt större möjlighet än andra utbildningar att skapa en intern utbildningslogik. Yrkesutbildning skall, av pedagogiska skäl, även fortsättningsvis planeras och organiseras som en sammanhängande helhet, vilket innebär att gränsen mellan grundnivå och avancerad nivå bli mindre tydlig. Detta skapar ett friutrymme, men det ställer också stora krav på planering och genomförande av en tydlig progression. Den här artikeln behandlar en av de största utbildningarna, lärarutbildning, och den tar sin utgångspunkt i just det som yrkesutbildningarna har att hantera – frihet, men inom snävare ramar. I fokus står begreppet progression och frågan om hur progression kan förstås och iscensättas i en bolognaanpassad lärarutbildning.
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| 18. |
- Lindgren, Cecilia, 1969-, et al.
(författare)
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Resa tillbaka. Om adoption, identitet och ursprung.
- 2009. - 1
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Ingår i: Historien, barnen och barndomarna. Vad är problemet?. - Linköping : Linköpings universitet. - 9789173936286 ; , s. 193-214
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Barndomen som den ter sig i ett bestämt samhälle är aldrig socialt och kulturellt neutral. Den är alltid en konsekvens av kulturella, politiska och sociala krafters samverkan. Barndomen skapas – en del skulle säga konstrueras – av politiska, sociala och kulturella förhållanden, av bestämda historiska förhållanden. Vid sekelskiftet 1900 stod barn och ungdomar i centrum för en livlig offentlig debatt. De sågs som ett påtagligt orosmoment på gator och torg och man klagade över föräldrarnas försummelser. Debatten reser en rad frågor rörande barnens roll i samhället. Var barnen verkligen så vanartade som ofta hävdades, och vad var det för brottslighet man var så räddför? Vilka sociala krafter låg bakom skräckvisionerna av ett samhälle inför sitt sammanbrott? Det är viktigt att de historiska förutsättningarna för engagemanget i barnens villkor klargöres. Sådana studier är viktiga eftersom debatter om barn och ungdomars villkor aktualiseras också i våra dagar. Ofta sker detta med jämförbara termer, begrepp och problemställningar. Vid sekelskiftet fördes diskussionen i termer vi känner igen från dagens Sverige; familjens kris och hemmens otillräcklighet, skolans brister, ungdomens agerande i offentliga miljöer och en ökande kriminalitet. Då som idag aktualiseras behovet av fler institutioner för det uppväxande släktet, familjestöd och rådgivning, samt behovet av skolreformer. Det är därför en central uppgift att klargöra under vilka betingelser och förutsättningar barn uppmärksammas sompolitiska och sociala problem.
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| 19. |
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| 20. |
- Lindgren, Kristina, et al.
(författare)
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Parascaris equorum in foals and in their environment on a Swedish stud farm, with notes on treatment failure of ivermectin
- 2008
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Ingår i: Veterinary parasitology. - : Elsevier BV. - 0304-4017 .- 1873-2550. ; 151:2-4, s. 337-343
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Tidskriftsartikel (refereegranskat)abstract
- Environmental contamination and the egg excretion pattern of the ascarid Parascaris equorum (Nematoda) was investigated in relation to anthelmintic treatment on a Swedish stud farm. Faecal samples from 15 foals, dewormed every 8th-week with a paste formulation of ivermectin at the standard dose rate of 0.2 mg/kg bodyweight, were collected at five sampling occasions between August and November 2006. In addition, soil samples were obtained from four paddocks used by these foals in November 2006. The number of eggs per gram (epg) was counted in both faeces and soil. Egg excretion started when the foals were 3-4 months, and reached the highest levels when they were approximately 5-month-old, and was then followed by a decline. Egg excretion seemed to be unaffected by ivermectin despite these foals were dewormed at regular intervals. In four out of five foals examined 10 days after treatment, epg actually increased. In contrast, when either fenbendazol or pyrantel embonate were used instead of ivermectin, treatments were effective. The number of eggs in soil was significantly higher in the permanent paddock compared to in the temporarily used soil paddock and in the summer paddocks. © 2007 Elsevier B.V. All rights reserved.
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| 21. |
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| 22. |
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| 23. |
- Lindgren, Sophie, 1971, et al.
(författare)
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Regional lung derecruitment after endotracheal suction during volume- or pressure-controlled ventilation: a study using electric impedance tomography
- 2007
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Ingår i: Intensive care medicine. - 0342-4642. ; 33:1, s. 172-80
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To assess lung volume and compliance changes during open- and closed-system suctioning using electric impedance tomography (EIT) during volume- or pressure-controlled ventilation. DESIGN AND SETTING: Experimental study in a university research laboratory. SUBJECTS: Nine bronchoalveolar saline-lavaged pigs. INTERVENTIONS: Open and closed suctioning using a 14-F catheter in volume- or pressure-controlled ventilation at tidal volume 10 ml/kg, respiratory rate 20 breaths/min, and positive end-expiratory pressure 10 cmH2O. MEASUREMENTS AND RESULTS: Lung volume was monitored by EIT and a modified N2 washout/-in technique. Airway pressure was measured via a pressure line in the endotracheal tube. In four ventral-to-dorsal regions of interest regional ventilation and compliance were calculated at baseline and 30 s and 1, 2, and 10 min after suctioning. Blood gases were followed. At disconnection functional residual capacity (FRC) decreased by 58+/-24% of baseline and by a further 22+/-10% during open suctioning. Arterial oxygen tension decreased to 59+/-14% of baseline value 1 min after open suctioning. Regional compliance deteriorated most in the dorsal parts of the lung. Restitution of lung volume and compliance was significantly slower during pressure-controlled than volume-controlled ventilation. CONCLUSIONS: EIT can be used to monitor rapid lung volume changes. The two dorsal regions of the lavaged lungs are most affected by disconnection and suctioning with marked decreases in compliance. Volume-controlled ventilation can be used to rapidly restitute lung aeration and oxygenation after lung collapse induced by open suctioning.
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| 24. |
- Loos, Ruth J. F., et al.
(författare)
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Common variants near MC4R are associated with fat mass, weight and risk of obesity
- 2008
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 40:6, s. 768-775
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Tidskriftsartikel (refereegranskat)abstract
- To identify common variants influencing body mass index (BMI), we analyzed genome-wide association data from 16,876 individuals of European descent. After previously reported variants in FTO, the strongest association signal (rs17782313, P = 2.9 x 10(-6)) mapped 188 kb downstream of MC4R (melanocortin-4 receptor), mutations of which are the leading cause of monogenic severe childhood-onset obesity. We confirmed the BMI association in 60,352 adults (per-allele effect = 0.05 Z-score units; P = 2.8 x 10(-15)) and 5,988 children aged 7-11 (0.13 Z-score units; P = 1.5 x 10(-8)). In case-control analyses (n = 10,583), the odds for severe childhood obesity reached 1.30 (P = 8.0 x 10(-11)). Furthermore, we observed overtransmission of the risk allele to obese offspring in 660 families (P (pedigree disequilibrium test average; PDT-avg) 2.4 x 10(-4)). The SNP location and patterns of phenotypic associations are consistent with effects mediated through altered MC4R function. Our findings establish that common variants near MC4R influence fat mass, weight and obesity risk at the population level and reinforce the need for large-scale data integration to identify variants influencing continuous biomedical traits.
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| 25. |
- Odenstedt, Helena, 1968, et al.
(författare)
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Slow moderate pressure recruitment maneuver minimizes negative circulatory and lung mechanic side effects: evaluation of recruitment maneuvers using electric impedance tomography.
- 2005
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Ingår i: Intensive care medicine. - : Springer Science and Business Media LLC. - 0342-4642 .- 1432-1238. ; 31:12, s. 1706-14
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To evaluate the efficacy of different lung recruitment maneuvers using electric impedance tomography. DESIGN AND SETTING: Experimental study in animal model of acute lung injury in an animal research laboratory. SUBJECTS: Fourteen pigs with saline lavage induced lung injury. INTERVENTIONS: Lung volume, regional ventilation distribution, gas exchange, and hemodynamics were monitored during three different recruitment procedures: (a) vital capacity maneuver to an inspiratory pressure of 40 cmH2O (ViCM), (b) pressure-controlled recruitment maneuver with peak pressure 40 and PEEP 20 cmH2O, both maneuvers repeated three times for 30 s (PCRM), and (c) a slow recruitment with PEEP elevation to 15 cmH2O with end inspiratory pauses for 7 s twice per minute over 15 min (SLRM). MEASUREMENTS AND RESULTS: Improvement in lung volume, compliance, and gas exchange were similar in all three procedures 15 min after recruitment. Ventilation in dorsal regions of the lungs increased by 60% as a result of increased regional compliance. During PCRM compliance decreased by 50% in the ventral region. Cardiac output decreased by 63+/-4% during ViCM, 44+/-2% during PCRM, and 21+/-3% during SLRM. CONCLUSIONS: In a lavage model of acute lung injury alveolar recruitment can be achieved with a slow lower pressure recruitment maneuver with less circulatory depression and negative lung mechanic side effects than with higher pressure recruitment maneuvers. With electric impedance tomography it was possible to monitor lung volume changes continuously.
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| 26. |
- Persson, Anders, et al.
(författare)
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Samhället som konstant, samhället som variabel. Om olika sätt att rättfärdiga barns och vuxnas lärande
- 2009
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Ingår i: Historien, barnen och barndomarna. Vad är problemet? En vänbok till Bengt Sandin. - Linköping : Linköpings universitet. ; , s. 257-279, s. 257-279
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Bokkapitel (refereegranskat)abstract
- I antologibidraget visas att lärande, eller kanske snarare deltagande i olika former av utbildning, rättfärdigas på olika sätt beroende på om de som utbildas är barn eller vuxna. Rättfärdigandet sker genom retoriska konstruktioner av samhället som närmast kan ses som motsatser: barnens skolgång rättfärdigas genom att samhället konstrueras som en, åtminstone värdemässig, konstant; vuxnas deltagande i utbildning rättfärdigas å andra sidan genom att samhället konstrueras som en variabel i ständig och omvälvande förändring. Vad ska vi då ha en sådan kunskap om rättfärdigande av utbildning till? Framförallt kan den kunskapen användas i en kritisk reflektion över den idag ymniga utbildningsretoriken.
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| 27. |
- Prokopenko, Inga, et al.
(författare)
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Variants in MTNR1B influence fasting glucose levels
- 2009
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:1, s. 77-81
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Tidskriftsartikel (refereegranskat)abstract
- To identify previously unknown genetic loci associated with fasting glucose concentrations, we examined the leading association signals in ten genome-wide association scans involving a total of 36,610 individuals of European descent. Variants in the gene encoding melatonin receptor 1B (MTNR1B) were consistently associated with fasting glucose across all ten studies. The strongest signal was observed at rs10830963, where each G allele (frequency 0.30 in HapMap CEU) was associated with an increase of 0.07 (95% CI = 0.06-0.08) mmol/l in fasting glucose levels (P = 3.2 x 10(-50)) and reduced beta-cell function as measured by homeostasis model assessment (HOMA-B, P = 1.1 x 10(-15)). The same allele was associated with an increased risk of type 2 diabetes (odds ratio = 1.09 (1.05-1.12), per G allele P = 3.3 x 10(-7)) in a meta-analysis of 13 case-control studies totaling 18,236 cases and 64,453 controls. Our analyses also confirm previous associations of fasting glucose with variants at the G6PC2 (rs560887, P = 1.1 x 10(-57)) and GCK (rs4607517, P = 1.0 x 10(-25)) loci.
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| 28. |
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| 29. |
- Salomon, Eva, et al.
(författare)
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Outdoor pig fattening at two Swedish organic farms-Spatial and temporal load of nutrients and potential environmental impact
- 2007
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Ingår i: Agriculture, Ecosystems & Environment. - : Elsevier BV. - 0167-8809 .- 1873-2305. ; 121:4, s. 407-418
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Tidskriftsartikel (refereegranskat)abstract
- In Sweden, outdoor organic pig production is gaining interest. However, the excretory behaviour of pigs may create plant nutrient hotspots in outdoor areas, increasing the environmental impact. This study examined fluxes and balances of N, P, K, Cu and Zn at pen level, and determined the effects of the excretory behaviour of fattening pigs on nutrient load, manure distribution and N, P, K, Cu and Zn concentration in soil within pens at two farms with different outdoor systems (mobile and stationary). A pen in the mobile system had about 72 pigs ha-1 and in the stationary system about 91 pigs ha-1. The average pen balance in the mobile system was 270 kg N, 60 kg P, 110 kg K, 0.4 kg Cu and 1.3 kg Zn ha-1 and in the stationary system 205 kg N, 57 kg P, 99 kg K, 0.4 kg Cu and 1.5 kg Zn ha-1. The smaller net accumulation of nutrients in the stationary system was due to about 30% of excrement nutrients being excreted indoors. A substantial proportion of nutrients (43-95%) from one pig group was found to be concentrated in an area of arable land representing 4-24% of the total pen area. In the mobile system the major part of the defecating was deposited on the hut, feeding and drinking sub-areas. The manure mapping also revealed pig behaviour of avoiding defecation in certain zones. In the stationary system, the concentration of exchangeable P and K in soil (0-30 cm depth) in areas preferred for excretion was more than four-fold higher and the concentration of mineral-N (0-90 cm depth) was about eight-fold higher than in other areas of the pen by the end of the fattening period. Preferred areas for excretion within the pen were affected both by the present pig groups and by previous pig groups 4 years back in time. In the mobile system, the concentration of mineral-N in soil was about three-fold higher in preferred excretion areas compared with other areas. Neither of the two outdoor systems succeeded in avoiding excessive point loads of N within the pen. The flexibility of the mobile outdoor system has to be further improved so that no harmful point loads of nutrients can occur. In the stationary system, a nutrient management technique for collecting the manure on the preferred excretion areas on arable land needs to be developed. © 2006 Elsevier B.V. All rights reserved.
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| 30. |
- Smedby, Karin Ekström, et al.
(författare)
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Variation in DNA repair genes ERCC2, XRCC1, and XRCC3 and risk of follicular lymphoma
- 2006
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Ingår i: Cancer Epidemiology, Biomarkers and Prevention. - 1055-9965 .- 1538-7755. ; 15:2, s. 258-265
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Tidskriftsartikel (refereegranskat)abstract
- The reasons for the positive association between skin cancer and non-Hodgkin's lymphoma are not known but may be due to common susceptibility involving suboptimal DNA repair. Therefore, we investigated selected polymorphisms and haplotypes in three DNA repair genes, previously associated with skin cancer and DNA repair capacity, in risk of follicular lymphoma, including possible gene interaction with cigarette smoking and sun exposure. We genotyped 19 single nucleotide polymorphisms (SNP) in the ERCC2, XRCC1, and XRCC3 genes in 430 follicular lymphoma patients and 605 controls within a population-based case-control study in Denmark and Sweden. Odds ratios (OR) and 95% confidence intervals (95% CI) were calculated using unconditional logistic regression and haplotype associations were assessed with a global score test. We observed no associations between variation in the ERCC2 and XRCC1 genes and follicular lymphoma risk. In XRCC3, increased risk of follicular lymphoma was suggested for rare homozygotes of three SNPs [Rs3212024: OR, 1.8 (95% CI, 1.1-2.8); Rs3212038: OR, 1.5 (95% CI, 1.0-2.4); Rs3212090: OR, 1.5 (95% CI, 1.0-2.5)]. These results were strengthened in current cigarette smokers. However, evidence of differences in XRCC3 haplotype distributions between follicular lymphoma cases and controls was weak, both overall and in current smokers. We conclude that polymorphic variation in the XRCC3 gene, but not in ERCC2 or XRCC1, may be of importance for susceptibility to follicular lymphoma, perhaps primarily in current smokers. The link between skin cancer and follicular lymphoma is unlikely to be mediated through common variation in the studied DNA repair gene polymorphisms.
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| 31. |
- Swanberg, Maria, et al.
(författare)
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MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction
- 2005
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 37:5, s. 486-494
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Tidskriftsartikel (refereegranskat)abstract
- Antigen presentation to T cells by MHC molecules is essential for adaptive immune responses. To determine the exact position of a gene affecting expression of MHC molecules, we finely mapped a previously defined rat quantitative trait locus regulating MHC class II on microglia in an advanced intercross line. We identified a small interval including the gene MHC class II transactivator (Mhc2ta) and, using a map over six inbred strains combined with gene sequencing and expression analysis, two conserved Mhc2ta haplotypes segregating with MHC class II levels. In humans, a -168A --> G polymorphism in the type III promoter of the MHC class II transactivator (MHC2TA) was associated with increased susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction, as well as lower expression of MHC2TA after stimulation of leukocytes with interferon-gamma. We conclude that polymorphisms in Mhc2ta and MHC2TA result in differential MHC molecule expression and are associated with susceptibility to common complex diseases with inflammatory components.
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| 32. |
- Weedon, Michael N., et al.
(författare)
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A common variant of HMGA2 is associated with adult and childhood height in the general population
- 2007
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 39:10, s. 1245-1250
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Tidskriftsartikel (refereegranskat)abstract
- Human height is a classic, highly heritable quantitative trait. To begin to identify genetic variants influencing height, we examined genome-wide association data from 4,921 individuals. Common variants in the HMGA2 oncogene, exemplified by rs1042725, were associated with height (P= 4x10(-8)). HMGA2 is also a strong biological candidate for height, as rare, severe mutations in this gene alter body size in mice and humans, so we tested rs1042725 in additional samples. We confirmed the association in 19,064 adults from four further studies (P= 3x10(-11), overall P= 4x10(-16), including the genome-wide association data). We also observed the association in children (P=1x 10(-6), N= 6,827) and a tall/short case-control study (P= 4x10(-6), N=3,207). We estimate that rs1042725 explains similar to 0.3% of population variation in height (similar to 0.4 cm increased adult height per C allele). There are few examples of common genetic variants reproducibly associated with human quantitative traits; these results represent, to our knowledge, the first consistently replicated association with adult and childhood height.
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| 33. |
- Willer, Cristen J., et al.
(författare)
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Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
- 2009
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:1, s. 25-34
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Tidskriftsartikel (refereegranskat)abstract
- Common variants at only two loci, FTO and MC4R, have been reproducibly associated with body mass index (BMI) in humans. To identify additional loci, we conducted meta-analysis of 15 genome-wide association studies for BMI (n > 32,000) and followed up top signals in 14 additional cohorts (n > 59,000). We strongly confirm FTO and MC4R and identify six additional loci (P < 5 x 10(-8)): TMEM18, KCTD15, GNPDA2, SH2B1, MTCH2 and NEGR1 (where a 45-kb deletion polymorphism is a candidate causal variant). Several of the likely causal genes are highly expressed or known to act in the central nervous system (CNS), emphasizing, as in rare monogenic forms of obesity, the role of the CNS in predisposition to obesity.
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| 34. |
- Wilstrand, Cecilia, et al.
(författare)
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Being burdened and balancing boundaries : a qualitative study of nurses' experiences caring for patients who self-harm
- 2007
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Ingår i: Journal of Psychiatric and Mental Health Nursing. - : Blackwell Publishing. - 1351-0126 .- 1365-2850. ; 14:1, s. 72-78
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Tidskriftsartikel (refereegranskat)abstract
- Although nurses encounter self‐harm patients in various settings, self‐harm has seldom been addressed in psychiatric nursing research. The research question was: ‘What are nurses’ descriptions of experiences of caring for psychiatric patients who self‐harm?' The data were comprised of text based on narrative interviews with six nurses employed in a psychiatric hospital in Sweden. By using qualitative content analysis, two themes and seven sub‐themes were constructed. The theme ‘Being burdened with feelings’ involved the sub‐themes: ‘Fearing for the patient’s life‐threatening actions', ‘Feeling overwhelmed by frustration’ and ‘Feeling abandoned by co‐workers and management’. The theme ‘Balancing professional boundaries’ involved the sub‐themes: ‘Maintaining professional boundaries between self and patient’, ‘Managing personal feelings’, ‘Feeling confirmed by co‐workers’ and ‘Imagining better ways of care’. Of significance are the nurses' feelings of fear, frustration and abandonment creating the sense of being burdened. This study points to the importance of releasing these burdens, not only for the sake of the nurses, but to improve the care of the patients. The importance of increased knowledge, support and supervision for professionals working with people who self‐harm, not only in psychiatric care, needs to be addressed in research, education and development of practice.
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| 35. |
- Zeggini, Eleftheria, et al.
(författare)
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Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
- 2008
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 40:5, s. 638-645
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association (GWA) studies have identified multiple loci at which common variants modestly but reproducibly influence risk of type 2 diabetes (T2D)(1-11). Established associations to common and rare variants explain only a small proportion of the heritability of T2D. As previously published analyses had limited power to identify variants with modest effects, we carried out meta-analysis of three T2D GWA scans comprising 10,128 individuals of European descent and similar to 2.2 million SNPs (directly genotyped and imputed), followed by replication testing in an independent sample with an effective sample size of up to 53,975. We detected at least six previously unknown loci with robust evidence for association, including the JAZF1 (P=5.0 x 10(-14)), CDC123-CAMK1D (P=1.2 x 10(-10)), TSPAN8-LGR5 (P=1.1 x 10(-9)), THADA (P=1.1 x 10(-9)), ADAMTS9 (P=1.2 x 10(-8)) and NOTCH2 (P=4.1 x 10(-8)) gene regions. Our results illustrate the value of large discovery and follow-up samples for gaining further insights into the inherited basis of T2D.
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