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41.
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42.
  • Kilpeläinen, Tuomas O, et al. (författare)
  • Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children.
  • 2011
  • Ingår i: PLoS medicine. - : Public Library of Science. - 1549-1676 .- 1549-1277. ; 8:11
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: The FTO gene harbors the strongest known susceptibility locus for obesity. While many individual studies have suggested that physical activity (PA) may attenuate the effect of FTO on obesity risk, other studies have not been able to confirm this interaction. To confirm or refute unambiguously whether PA attenuates the association of FTO with obesity risk, we meta-analyzed data from 45 studies of adults (n = 218,166) and nine studies of children and adolescents (n = 19,268). METHODS AND FINDINGS: All studies identified to have data on the FTO rs9939609 variant (or any proxy [r(2)>0.8]) and PA were invited to participate, regardless of ethnicity or age of the participants. PA was standardized by categorizing it into a dichotomous variable (physically inactive versus active) in each study. Overall, 25% of adults and 13% of children were categorized as inactive. Interaction analyses were performed within each study by including the FTO×PA interaction term in an additive model, adjusting for age and sex. Subsequently, random effects meta-analysis was used to pool the interaction terms. In adults, the minor (A-) allele of rs9939609 increased the odds of obesity by 1.23-fold/allele (95% CI 1.20-1.26), but PA attenuated this effect (p(interaction)  = 0.001). More specifically, the minor allele of rs9939609 increased the odds of obesity less in the physically active group (odds ratio  = 1.22/allele, 95% CI 1.19-1.25) than in the inactive group (odds ratio  = 1.30/allele, 95% CI 1.24-1.36). No such interaction was found in children and adolescents. CONCLUSIONS: The association of the FTO risk allele with the odds of obesity is attenuated by 27% in physically active adults, highlighting the importance of PA in particular in those genetically predisposed to obesity.
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43.
  • Lagou, Vasiliki, et al. (författare)
  • Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability
  • 2021
  • Ingår i: Nature Communications. - : NATURE RESEARCH. - 2041-1723 .- 2041-1723. ; 12:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Differences between sexes contribute to variation in the levels of fasting glucose and insulin. Epidemiological studies established a higher prevalence of impaired fasting glucose in men and impaired glucose tolerance in women, however, the genetic component underlying this phenomenon is not established. We assess sex-dimorphic (73,089/50,404 women and 67,506/47,806 men) and sex-combined (151,188/105,056 individuals) fasting glucose/fasting insulin genetic effects via genome-wide association study meta-analyses in individuals of European descent without diabetes. Here we report sex dimorphism in allelic effects on fasting insulin at IRS1 and ZNF12 loci, the latter showing higher RNA expression in whole blood in women compared to men. We also observe sex-homogeneous effects on fasting glucose at seven novel loci. Fasting insulin in women shows stronger genetic correlations than in men with waist-to-hip ratio and anorexia nervosa. Furthermore, waist-to-hip ratio is causally related to insulin resistance in women, but not in men. These results position dissection of metabolic and glycemic health sex dimorphism as a steppingstone for understanding differences in genetic effects between women and men in related phenotypes.
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44.
  • Langenberg, Claudia, et al. (författare)
  • Gene-Lifestyle Interaction and Type 2 Diabetes: The EPIC InterAct Case-Cohort Study.
  • 2014
  • Ingår i: PLoS Medicine. - : Public Library of Science. - 1549-1676 .- 1549-1277. ; 11:5
  • Tidskriftsartikel (refereegranskat)abstract
    • Understanding of the genetic basis of type 2 diabetes (T2D) has progressed rapidly, but the interactions between common genetic variants and lifestyle risk factors have not been systematically investigated in studies with adequate statistical power. Therefore, we aimed to quantify the combined effects of genetic and lifestyle factors on risk of T2D in order to inform strategies for prevention.
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45.
  • Locke, Adam E, et al. (författare)
  • Genetic studies of body mass index yield new insights for obesity biology.
  • 2015
  • Ingår i: Nature. - : Nature Publishing Group. - 0028-0836 .- 1476-4687. ; 518:7538, s. 197-401
  • Tidskriftsartikel (refereegranskat)abstract
    • Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
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46.
  • Lohmander, Anette, et al. (författare)
  • Scandcleft randomised trials of primary surgery for unilateral cleft lip and palate: 4. Speech outcomes in 5-year-olds - velopharyngeal competency and hypernasality.
  • 2017
  • Ingår i: Journal of plastic surgery and hand surgery. - : TAYLOR & FRANCIS LTD. - 2000-6764 .- 2000-656X. ; 51:1, s. 27-37
  • Tidskriftsartikel (refereegranskat)abstract
    • Adequate velopharyngeal function and speech are main goals in the treatment of cleft palate. The objective was to investigate if there were differences in velopharyngeal competency (VPC) and hypernasality at age 5 years in children with unilateral cleft lip and palate (UCLP) operated on with different surgical methods for primary palatal repair. A secondary aim was to estimate burden of care in terms of received additional secondary surgeries and speech therapy.Three parallel group, randomised clinical trials were undertaken as an international multicentre study by 10 cleft teams in five countries: Denmark, Finland, Sweden, Norway, and the UK.Three different surgical protocols for primary palatal repair were tested against a common procedure in the total cohort of 448 children born with a non-syndromic UCLP. Speech audio and video recordings of 391 children (136 girls, 255 boys) were available and perceptually analysed. The main outcome measures were VPC and hypernasality from blinded assessments.There were no statistically significant differences between the prevalences in the arms in any of the trials. VPC: Trial 1, A: 58%, B: 61%; Trial 2, A: 57%, C: 54%; Trial 3, A: 35%, D: 51%. No hypernasality: Trial 1, A: 54%, B: 44%; Trial 2, A: 47%, C: 51%; Trial 3, A: 34%, D: 49%.No differences were found regarding VPC and hypernasality at age 5 years after different methods for primary palatal repair. The burden of care in terms of secondary pharyngeal surgeries, number of fistulae, and speech therapy visits differed.ISRCTN29932826.
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47.
  • Lohmander, Anette, et al. (författare)
  • Validity of auditory perceptual assessment of velopharyngeal function and dysfunction - the VPC-Sum and the VPC-Rate.
  • 2017
  • Ingår i: Clinical linguistics & phonetics. - : TAYLOR & FRANCIS INC. - 1464-5076 .- 0269-9206. ; 31:7-9, s. 589-597
  • Tidskriftsartikel (refereegranskat)abstract
    • Overall weighted or composite variables for perceptual auditory estimation of velopharyngeal closure or competence have been used in several studies for evaluation of velopharyngeal function during speech. The aim of the present study was to investigate the validity of a composite score (VPC-Sum) and of auditory perceptual ratings of velopharyngeal competence (VPC-Rate). Available VPC-Sum scores and judgments of associated variables (hypernasality, audible nasal air leakage, weak pressure consonants, and non-oral articulation) from 391 5-year olds with repaired cleft palate (the Scandcleft project) were used to investigate content validity, and 339 of these were compared with an overall judgment of velopharyngeal competence (VPC-Rate) on the same patients by the same listeners. Significant positive correlations were found between the VPC-Sum and each of the associated variables (Cronbachs alpha 0.55-0.87, P < 0.001), and a moderately significant positive correlation between VPC-Sum and VPC-Rate (Rho 0.698, P < 0.01). The latter classified cases well when VPC-Sum was dichotomized with 67% predicted velopharyngeal competence and 90% velopharyngeal incompetence. The validity of the VPC-Sum was good and the VPC-Rate a good predictor, suggesting possible use of both measures depending on the objective.
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48.
  • Magnusson, Patrik K. E., et al. (författare)
  • The Swedish Twin Registry : establishment of a biobank and other recent developments
  • 2013
  • Ingår i: Twin Research and Human Genetics. - Cambridge, United Kingdom : Cambridge University Press. - 1832-4274 .- 1839-2628. ; 16:1, s. 317-329
  • Tidskriftsartikel (refereegranskat)abstract
    • The Swedish Twin Registry (STR) today contains more than 194,000 twins and more than 75,000 pairs have zygosity determined by an intra-pair similarity algorithm, DNA, or by being of opposite sex. Of these, approximately 20,000, 25,000, and 30,000 pairs are monozygotic, same-sex dizygotic, and opposite-sex dizygotic pairs, respectively. Since its establishment in the late 1950s, the STR has been an important epidemiological resource for the study of genetic and environmental influences on a multitude of traits, behaviors, and diseases. Following large investments in the collection of biological specimens in the past 10 years we have now established a Swedish twin biobank with DNA from 45,000 twins and blood serum from 15,000 twins, which effectively has also transformed the registry into a powerful resource for molecular studies. We here describe the main projects within which the new collections of both biological samples as well as phenotypic measures have been collected. Coverage by year of birth, zygosity determination, ethnic heterogeneity, and influences of in vitro fertilization are also described.
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49.
  • Mahajan, Anubha, et al. (författare)
  • Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility
  • 2014
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1546-1718 .- 1061-4036. ; 46:3, s. 234-234
  • Tidskriftsartikel (refereegranskat)abstract
    • To further understanding of the genetic basis of type 2 diabetes (T2D) susceptibility, we aggregated published meta-analyses of genome-wide association studies (GWAS), including 26,488 cases and 83,964 controls of European, east Asian, south Asian and Mexican and Mexican American ancestry. We observed a significant excess in the directional consistency of T2D risk alleles across ancestry groups, even at SNPs demonstrating only weak evidence of association. By following up the strongest signals of association from the trans-ethnic meta-analysis in an additional 21,491 cases and 55,647 controls of European ancestry, we identified seven new T2D susceptibility loci. Furthermore, we observed considerable improvements in the fine-mapping resolution of common variant association signals at several T2D susceptibility loci. These observations highlight the benefits of trans-ethnic GWAS for the discovery and characterization of complex trait loci and emphasize an exciting opportunity to extend insight into the genetic architecture and pathogenesis of human diseases across populations of diverse ancestry.
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50.
  • Pedersen, Eja, 1957-, et al. (författare)
  • Värdering av kulturella ekosystemtjänster baserat på bidrag till livskvalitet : slutrapport
  • 2017
  • Rapport (refereegranskat)abstract
    • Rapporten presenterar resultaten av forskningsprojektet Värdering av kulturella ekosystemtjänster baserat på bidrag till livskvalitet, ett av sju projekt som ingår i forskningssatsningen Värdet av ekosystemtjänster. I projektet undersöks om etablerade teorier, begrepp och metoder från miljöpsykologisk forskning kring interaktionen mellan människa och naturmiljö kan bidra till förståelsen av kulturella ekosystemtjänster och deras värde.Projektet visar att värdet av grönområden kan beskrivas utifrån hur områ­ dena bidrar till närboendes livskvalitet genom att de ger möjlighet till miljö­ upplevelser, känsloresponser och aktiviteter som främjar hälsan, inte minst återhämtning. Slutsatsen är att kulturella ekosystemtjänster kan värderas ickemonetärt med utgångspunkt från väletablerade teorier, begrepp och metoder. Men forskarna ser att den kompetens som finns bland tjänstemän som arbetar med kulturella ekosystemtjänster idag behöver kompletteras med kunskap i beteendevetenskap.Ekosystemtjänster är grunden för vår välfärd. Ändå tar vi dem ofta för givna. Genom en ökad medvetenhet om och värdering av ekosystemtjänster kan vi påverka vår framtida välfärd och livskvalitet. Politiker, myndigheter, kommuner, företag och organisationer kan därigenom fatta mer välunderbyggda beslut.Rapporten är författad av Eja Pedersen och Maria Johansson, Miljöpsykologi, Institutionen för arkitektur och byggd miljö, Lunds universitet och Stefan Weisner, Våtmarkscentrum, Akademin för ekonomi, teknik och naturvetenskap. Eja Pedersen har varit projektledare och organiserat resultatrapporteringen. Maria Johansson har ansvarat för de miljöpsykologiska teorierna och metoderna. Stefan Weisner har deltagit i projektet som expert på anlagda våtmarker. Samarbetspartners var Länsstyrelsen i Skåne, Hässleholms kommun, Staffanstorps kommun och Helsingborgs stad.Forskningssatsningen Värdet av ekosystemtjänster är en central insats för att nå ett av etappmålen inom miljömålssystemet genom att öka kunskapen om hur ekosystemtjänster bättre kan användas i olika beslutssituationer. Etappmålet innebär att betydelsen av biologisk mångfald och värdet av ekosystemtjänster senast 2018 ska vara allmänt kända och integreras i ekonomiska ställningstaganden, politiska avväganden och andra beslut i samhället där så är relevant och skäligt. Sju olika forskargrupper ingår i den omfattande satsningen som började 2014.Författarna tackar alla som bidragit med kunskap och erfarenhet under projektets gång. För projektets genomförande och analyser av resultaten, tack till Beatrice Marschke, Emilie Björling, Eva Hedenfelt, Lina Haremst, Linnea Saarela, Lukas Österling och Sanna Stålhammar. För värdefulla synpunkter i slutskedet av rapporteringen tackar projektet David Barton och Eeva Furman. Och till alla som deltagit i fokusgrupper och strukturerade vandringar, svarat på enkäter och deltagit i workshopar – ett stort tack!!
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