SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Schmidt Helena) "

Sökning: WFRF:(Schmidt Helena)

  • Resultat 1-10 av 82
  • [1]234567...9Nästa
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Graham, Sarah E, et al. (författare)
  • The power of genetic diversity in genome-wide association studies of lipids.
  • 2021
  • Ingår i: Nature. - : Nature Publishing Group. - 1476-4687 .- 0028-0836. ; 600:7890, s. 675-679
  • Tidskriftsartikel (refereegranskat)abstract
    • Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied prevalence worldwide owing to different dietary patterns and medication use1. Despite advances in prevention and treatment, in particular through reducing low-density lipoprotein cholesterol levels2, heart disease remains the leading cause of death worldwide3. Genome-wideassociation studies (GWAS) of blood lipid levels have led to important biological and clinical insights, as well as new drug targets, for cardiovascular disease. However, most previous GWAS4-23 have been conducted in European ancestry populations and may have missed genetic variants that contribute to lipid-level variation in other ancestry groups. These include differences in allele frequencies, effect sizes and linkage-disequilibrium patterns24. Here we conduct a multi-ancestry, genome-wide genetic discovery meta-analysis of lipid levels in approximately 1.65 million individuals, including 350,000 of non-European ancestries. We quantify the gain in studying non-European ancestries and provide evidence to support the expansion of recruitment of additional ancestries, even with relatively small sample sizes. We find that increasing diversity rather than studying additional individuals of European ancestry results in substantial improvements in fine-mapping functional variants and portability of polygenic prediction (evaluated in approximately 295,000 individuals from 7 ancestry groupings). Modest gains in the number of discovered loci and ancestry-specific variants were also achieved. As GWAS expand emphasis beyond the identification of genes and fundamental biology towards the use of genetic variants for preventive and precision medicine25, we anticipate that increased diversity of participants will lead to more accurate and equitable26 application of polygenic scores in clinical practice.
  •  
2.
  • Barban, Nicola, et al. (författare)
  • Genome-wide analysis identifies 12 loci influencing human reproductive behavior
  • 2016
  • Ingår i: Nature Genetics. - 1061-4036 .- 1546-1718. ; 48:12, s. 1462-1472
  • Tidskriftsartikel (refereegranskat)abstract
    • The genetic architecture of human reproductive behavior age at first birth (AFB) and number of children ever born (NEB) has a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders. However, very few genetic loci have been identified, and the underlying mechanisms of AFB and NEB are poorly understood. We report a large genome-wide association study of both sexes including 251,151 individuals for AFB and 343,072 individuals for NEB. We identified 12 independent loci that are significantly associated with AFB and/or NEB in a SNP-based genome-wide association study and 4 additional loci associated in a gene-based effort. These loci harbor genes that are likely to have a role, either directly or by affecting non-local gene expression, in human reproduction and infertility, thereby increasing understanding of these complex traits.
  •  
3.
  •  
4.
  • Okbay, Aysu, et al. (författare)
  • Genome-wide association study identifies 74 loci associated with educational attainment
  • 2016
  • Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 533:7604, s. 539-542
  • 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(1). Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample(1,2) 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.
  •  
5.
  • Suhonen, Riitta, et al. (författare)
  • European orthopaedic and trauma patients' perceptions of nursing care : a comparative study
  • 2009
  • Ingår i: Journal of Clinical Nursing. - 0962-1067 .- 1365-2702. ; 18:20, s. 2818-2829
  • Tidskriftsartikel (refereegranskat)abstract
    • AIM: To compare English, Finnish, Greek and Swedish orthopaedic and trauma patients' perceptions of nursing care received during hospitalisation. BACKGROUND: Patient perceptions are important when evaluating nursing care delivery. Evaluations usually take place sub-nationally though European citizens may be treated throughout the European Union. International comparative studies are possible because of the universal nature and philosophical roots of quality in nursing care. They are needed to assist in improving care outcomes. DESIGN: A cross-sectional, comparative study design was used. METHOD: The Schmidt Perception of Nursing Care Survey was used to obtain data from orthopaedic and trauma patients in acute hospitals in four countries: Finland (n = 425, response rate 85%), Greece (n = 315, 86%), Sweden (n = 218, 73%) and UK (n = 135, 85%). Data were first analysed using descriptive statistics, then between-country comparisons were computed inferentially using a one-way analysis of variance and a univariate analysis of covariance. RESULTS: Between-country differences were found in patients' perceptions of the nursing care received. Over the whole Schmidt Perception of Nursing Care Survey the Swedish and Finnish patients gave their care the highest assessments and the Greek patients the lowest. The same trend was seen in each of the four sub-scales: Seeing The Individual Patient, Explaining, Responding and Watching. Responding was given the highest assessments in each participating country and Seeing the Individual Patient the lowest except in Greece. CONCLUSIONS: Further research is needed to consider whether the between-country differences found are caused by differences between cultures, nursing practices, roles of healthcare personnel or patients in the different countries. The Schmidt Perception of Nursing Care Survey is suitable for the assessment of European orthopaedic and trauma patients' perceptions of nursing care received during hospitalisation. RELEVANCE TO CLINICAL PRACTICE: The results are useful in evaluating and developing nursing care in hospitals from different European countries.
  •  
6.
  •  
7.
  • Abelev, Betty, et al. (författare)
  • Long-range angular correlations on the near and away side in p-Pb collisions at root S-NN=5.02 TeV
  • 2013
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier. - 0370-2693. ; 719:1-3, s. 29-41
  • Tidskriftsartikel (refereegranskat)abstract
    • Angular correlations between charged trigger and associated particles are measured by the ALICE detector in p-Pb collisions at a nucleon-nucleon centre-of-mass energy of 5.02 TeV for transverse momentum ranges within 0.5 < P-T,P-assoc < P-T,P-trig < 4 GeV/c. The correlations are measured over two units of pseudorapidity and full azimuthal angle in different intervals of event multiplicity, and expressed as associated yield per trigger particle. Two long-range ridge-like structures, one on the near side and one on the away side, are observed when the per-trigger yield obtained in low-multiplicity events is subtracted from the one in high-multiplicity events. The excess on the near-side is qualitatively similar to that recently reported by the CMS Collaboration, while the excess on the away-side is reported for the first time. The two-ridge structure projected onto azimuthal angle is quantified with the second and third Fourier coefficients as well as by near-side and away-side yields and widths. The yields on the near side and on the away side are equal within the uncertainties for all studied event multiplicity and p(T) bins, and the widths show no significant evolution with event multiplicity or p(T). These findings suggest that the near-side ridge is accompanied by an essentially identical away-side ridge. (c) 2013 CERN. Published by Elsevier B.V. All rights reserved.
  •  
8.
  • Abelev, Betty, et al. (författare)
  • Measurement of prompt J/psi and beauty hadron production cross sections at mid-rapidity in pp collisions at root s=7 TeV
  • 2012
  • Ingår i: Journal of High Energy Physics. - : Springer. - 1029-8479. ; :11
  • Tidskriftsartikel (refereegranskat)abstract
    • The ALICE experiment at the LHC has studied J/psi production at mid-rapidity in pp collisions at root s = 7 TeV through its electron pair decay on a data sample corresponding to an integrated luminosity L-int = 5.6 nb(-1). The fraction of J/psi from the decay of long-lived beauty hadrons was determined for J/psi candidates with transverse momentum p(t) > 1,3 GeV/c and rapidity vertical bar y vertical bar < 0.9. The cross section for prompt J/psi mesons, i.e. directly produced J/psi and prompt decays of heavier charmonium states such as the psi(2S) and chi(c) resonances, is sigma(prompt J/psi) (p(t) > 1.3 GeV/c, vertical bar y vertical bar < 0.9) = 8.3 +/- 0.8(stat.) +/- 1.1 (syst.)(-1.4)(+1.5) (syst. pol.) mu b. The cross section for the production of b-hadrons decaying to J/psi with p(t) > 1.3 GeV/c and vertical bar y vertical bar < 0.9 is a sigma(J/psi <- hB) (p(t) > 1.3 GeV/c, vertical bar y vertical bar < 0.9) = 1.46 +/- 0.38 (stat.)(-0.32)(+0.26) (syst.) mu b. The results are compared to QCD model predictions. The shape of the p(t) and y distributions of b-quarks predicted by perturbative QCD model calculations are used to extrapolate the measured cross section to derive the b (b) over bar pair total cross section and d sigma/dy at mid-rapidity.
  •  
9.
  • Abelev, Betty, et al. (författare)
  • Underlying Event measurements in pp collisions at root s=0.9 and 7 TeV with the ALICE experiment at the LHC
  • 2012
  • Ingår i: Journal of High Energy Physics. - : Springer. - 1029-8479. ; :7
  • Tidskriftsartikel (refereegranskat)abstract
    • We present measurements of Underlying Event observables in pp collisions at root s = 0 : 9 and 7 TeV. The analysis is performed as a function of the highest charged-particle transverse momentum p(T),L-T in the event. Different regions are defined with respect to the azimuthal direction of the leading (highest transverse momentum) track: Toward, Transverse and Away. The Toward and Away regions collect the fragmentation products of the hardest partonic interaction. The Transverse region is expected to be most sensitive to the Underlying Event activity. The study is performed with charged particles above three different p(T) thresholds: 0.15, 0.5 and 1.0 GeV/c. In the Transverse region we observe an increase in the multiplicity of a factor 2-3 between the lower and higher collision energies, depending on the track p(T) threshold considered. Data are compared to PYTHIA 6.4, PYTHIA 8.1 and PHOJET. On average, all models considered underestimate the multiplicity and summed p(T) in the Transverse region by about 10-30%.
  •  
10.
  • Adams, Hieab H. H., et al. (författare)
  • Novel genetic loci underlying human intracranial volume identified through genome-wide association
  • 2016
  • Ingår i: Nature Neuroscience. - 1097-6256 .- 1546-1726. ; 19:12, s. 1569-1582
  • Tidskriftsartikel (refereegranskat)abstract
    • Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously unknown loci for intracranial volume and confirmed two known signals. Four of the loci were also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (rho(genetic) = 0.748), which indicates a similar genetic background and allowed us to identify four additional loci through meta-analysis (N-combined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, and Parkinson's disease, and were enriched near genes involved in growth pathways, including PI3K-AKT signaling. These findings identify the biological underpinnings of intracranial volume and their link to physiological and pathological traits.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-10 av 82
  • [1]234567...9Nästa
Typ av publikation
tidskriftsartikel (79)
annan publikation (1)
konferensbidrag (1)
licentiatavhandling (1)
Typ av innehåll
refereegranskat (77)
övrigt vetenskapligt (4)
populärvet., debatt m.m. (1)
Författare/redaktör
Schmidt, Helena (40)
Schmidt, Reinhold (39)
Gudnason, Vilmundur (29)
Uitterlinden, Andre ... (27)
Van Duijn, Cornelia ... (27)
Teumer, Alexander (26)
visa fler...
Harris, Tamara B (26)
Smith, Albert V. (25)
Hofman, Albert (24)
Launer, Lenore J. (23)
Vitart, Veronique (21)
Hayward, Caroline (20)
Polasek, Ozren (20)
Psaty, Bruce M. (19)
Rotter, Jerome I. (19)
Rudan, Igor (19)
Chasman, Daniel I. (19)
Wilson, James F. (19)
Boerwinkle, Eric (19)
Ikram, M. Arfan (18)
Rivadeneira, Fernand ... (18)
Esko, Tonu (18)
Gasparini, Paolo (18)
Raitakari, Olli T (17)
Hofer, Edith (17)
Campbell, Harry (17)
Ridker, Paul M. (17)
Gieger, Christian (17)
Metspalu, Andres (17)
Vollenweider, Peter (17)
Nauck, Matthias (16)
Deary, Ian J. (16)
Robino, Antonietta (16)
Trompet, Stella (15)
Amin, Najaf (15)
Boomsma, Dorret I. (15)
Jukema, J. Wouter (15)
Montgomery, Grant W. (15)
Martin, Nicholas G. (15)
Loos, Ruth J F (15)
Ciullo, Marina (15)
Kutalik, Zoltan (15)
Ruggiero, Daniela (15)
Salomaa, Veikko (14)
Homuth, Georg (14)
Hottenga, Jouke-Jan (14)
Pramstaller, Peter P ... (14)
Liu, Yongmei (14)
Heid, Iris M (14)
Toniolo, Daniela (14)
visa färre...
Lärosäte
Uppsala universitet (41)
Lunds universitet (30)
Karolinska Institutet (11)
Umeå universitet (10)
Göteborgs universitet (8)
Högskolan Kristianstad (7)
visa fler...
Stockholms universitet (6)
Chalmers tekniska högskola (4)
Malmö universitet (3)
Mittuniversitetet (2)
Högskolan i Halmstad (2)
Linköpings universitet (1)
Jönköping University (1)
Södertörns högskola (1)
Högskolan Dalarna (1)
visa färre...
Språk
Engelska (80)
Svenska (2)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (59)
Naturvetenskap (14)
Samhällsvetenskap (5)
Teknik (2)

År

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy