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Träfflista för sökning "WFRF:(Van Riet T.) "

Sökning: WFRF:(Van Riet T.)

  • Resultat 1-10 av 16
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1.
  • Albrechtsen, A., et al. (författare)
  • Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes
  • 2013
  • Ingår i: Diabetologia. - : Springer Science and Business Media LLC. - 0012-186X .- 1432-0428. ; 56:2, s. 298-310
  • Tidskriftsartikel (refereegranskat)abstract
    • Human complex metabolic traits are in part regulated by genetic determinants. Here we applied exome sequencing to identify novel associations of coding polymorphisms at minor allele frequencies (MAFs) > 1% with common metabolic phenotypes. The study comprised three stages. We performed medium-depth (8x) whole exome sequencing in 1,000 cases with type 2 diabetes, BMI > 27.5 kg/m(2) and hypertension and in 1,000 controls (stage 1). We selected 16,192 polymorphisms nominally associated (p < 0.05) with case-control status, from four selected annotation categories or from loci reported to associate with metabolic traits. These variants were genotyped in 15,989 Danes to search for association with 12 metabolic phenotypes (stage 2). In stage 3, polymorphisms showing potential associations were genotyped in a further 63,896 Europeans. Exome sequencing identified 70,182 polymorphisms with MAF > 1%. In stage 2 we identified 51 potential associations with one or more of eight metabolic phenotypes covered by 45 unique polymorphisms. In meta-analyses of stage 2 and stage 3 results, we demonstrated robust associations for coding polymorphisms in CD300LG (fasting HDL-cholesterol: MAF 3.5%, p = 8.5 x 10(-14)), COBLL1 (type 2 diabetes: MAF 12.5%, OR 0.88, p = 1.2 x 10(-11)) and MACF1 (type 2 diabetes: MAF 23.4%, OR 1.10, p = 8.2 x 10(-10)). We applied exome sequencing as a basis for finding genetic determinants of metabolic traits and show the existence of low-frequency and common coding polymorphisms with impact on common metabolic traits. Based on our study, coding polymorphisms with MAF above 1% do not seem to have particularly high effect sizes on the measured metabolic traits.
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2.
  • Reiling, E., et al. (författare)
  • Genetic association analysis of LARS2 with type 2 diabetes
  • 2010
  • Ingår i: Diabetologia. - : Springer Science and Business Media LLC. - 1432-0428 .- 0012-186X. ; 53:1, s. 103-110
  • Tidskriftsartikel (refereegranskat)abstract
    • LARS2 has been previously identified as a potential type 2 diabetes susceptibility gene through the low-frequency H324Q (rs71645922) variant (minor allele frequency [MAF] 3.0%). However, this association did not achieve genome-wide levels of significance. The aim of this study was to establish the true contribution of this variant and common variants in LARS2 (MAF > 5%) to type 2 diabetes risk. We combined genome-wide association data (n = 10,128) from the DIAGRAM consortium with independent data derived from a tagging single nucleotide polymorphism (SNP) approach in Dutch individuals (n = 999) and took forward two SNPs of interest to replication in up to 11,163 Dutch participants (rs17637703 and rs952621). In addition, because inspection of genome-wide association study data identified a cluster of low-frequency variants with evidence of type 2 diabetes association, we attempted replication of rs9825041 (a proxy for this group) and the previously identified H324Q variant in up to 35,715 participants of European descent. No association between the common SNPs in LARS2 and type 2 diabetes was found. Our replication studies for the two low-frequency variants, rs9825041 and H324Q, failed to confirm an association with type 2 diabetes in Dutch, Scandinavian and UK samples (OR 1.03 [95% CI 0.95-1.12], p = 0.45, n = 31,962 and OR 0.99 [0.90-1.08], p = 0.78, n = 35,715 respectively). In this study, the largest study examining the role of sequence variants in LARS2 in type 2 diabetes susceptibility, we found no evidence to support previous data indicating a role in type 2 diabetes susceptibility.
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4.
  • Sakornsakolpat, Phuwanat, et al. (författare)
  • Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations
  • 2019
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 51:3, s. 494-505
  • Tidskriftsartikel (refereegranskat)abstract
    • Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality worldwide. Genetic risk loci provide new insights into disease pathogenesis. We performed a genome-wide association study in 35,735 cases and 222,076 controls from the UK Biobank and additional studies from the International COPD Genetics Consortium. We identified 82 loci associated with P < 5 x 10-8; 47 of these were previously described in association with either COPD or population-based measures of lung function. Of the remaining 35 new loci, 13 were associated with lung function in 79,055 individuals from the SpiroMeta consortium. Using gene expression and regulation data, we identified functional enrichment of COPD risk loci in lung tissue, smooth muscle, and several lung cell types. We found 14 COPD loci shared with either asthma or pulmonary fibrosis. COPD genetic risk loci clustered into groups based on associations with quantitative imaging features and comorbidities. Our analyses provide further support for the genetic susceptibility and heterogeneity of COPD.
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5.
  • Timmermans, Anne, et al. (författare)
  • Endometrial Thickness Measurement for Detecting Endometrial Cancer in Women With Postmenopausal Bleeding A Systematic Review and Meta-Analysis
  • 2010
  • Ingår i: Obstetrics and Gynecology. - 1873-233X. ; 116:1, s. 160-167
  • Forskningsöversikt (refereegranskat)abstract
    • OBJECTIVE: To estimate the accuracy of endometrial thickness measurement in the detection of endometrial cancer among women with postmenopausal bleeding with individual patient data using different meta-analytic strategies. DATA SOURCES: Original data sets of studies detected after reviewing the included studies of three previous reviews on this subject. An additional literature search of published articles using MEDLINE databases was preformed from January 2000 to December 2006 to identify articles reporting on endometrial carcinoma and sonographic endometrial thickness measurement in women with postmenopausal bleeding. METHODS OF STUDY SELECTION: We identified 90 studies reporting on endometrial thickness measurements and endometrial carcinoma in women with postmenopausal bleeding. TABULATION, INTEGRATION, AND RESULTS: We contacted 79 primary investigators to obtain the individual patient data of their reported studies, of which 13 could provide data. Data on 2,896 patients, of which 259 had carcinoma, were included. Several approaches were used in the analyses of the acquired data. First, we performed receiver operator characteristics (ROC) analysis per study, resulting in a summary area under the ROC curve (AUC) calculated as a weighted mean of AUCs from original studies. Second, individual patient data were pooled and analyzed with ROC analyses irrespective of study with standardization of distributional differences across studies using multiples of the median and by random effects logistic regression. Finally, we also used a two-stage procedure, calculating sensitivities and specificities for each study and using the bivariate random effects model to estimate summary estimates for diagnostic accuracy. This resulted in rather comparable ROC curves with AUCs varying between 0.82 and 0.84 and summary estimates for sensitivity and specificity located along these curves. These curves indicated a lower AUC than previously reported meta-analyses using conventional techniques. CONCLUSION: Previous meta-analyses on endometrial thickness measurement probably have overestimated its diagnostic accuracy in the detection of endometrial carcinoma. We advise the use of cutoff level of 3 mm for exclusion of endometrial carcinoma in women with postmenopausal bleeding. (Obstet Gynecol 2010;116:160-7)
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8.
  • Danielsson, U.H., et al. (författare)
  • A note on obstinate tachyons in classical dS solutions
  • 2013
  • Ingår i: Journal of High Energy Physics (JHEP). - 1126-6708 .- 1029-8479. ; :3, s. 138-
  • Tidskriftsartikel (refereegranskat)abstract
    • The stabilisation of the dilaton and volume in tree-level flux compactifications leads to model independent and thus very powerful existence and stability criteria for dS solutions. In this paper we show that the sizes of cycles wrapped by orientifold planes are scalars whose scalings in the potential are not entirely model independent, but enough to entail strong stability constraints. For all known dS solutions arising from massive IIA supergravity flux compactifications on SU(3)-structure manifolds the tachyons are exactly within the subspace spanned by the dilaton, the total volume and the volumes of the orientifold cycles. We illustrate this in detail for the well-studied case of the O6 plane compactification on SU(2)xSU(2)/Z_2xZ_2. For that example we uncover another novel structure in the tachyon spectrum: the dS solutions have a singular, but supersymmetric, Minkowski limit, in which the tachyon exactly aligns with the sgoldstino.
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9.
  • Bena, I., et al. (författare)
  • Antibranes cannot become black
  • 2013
  • Ingår i: Physical Review D. - 1550-7998 .- 1550-2368. ; 87:10, s. 104023-
  • Tidskriftsartikel (refereegranskat)abstract
    • When D-branes are inserted in flux backgrounds of opposite charge, the resulting solution has a certain singularity in the fluxes. Recently it has been argued, using numerical solutions, that for anti-D3 branes in the Klebanov-Strassler background, these singularities cannot be cloaked by a horizon, which strongly suggests they are not physical. In this paper we provide an analytic proof that the singularity of all codimension-three antibrane solutions (such as anti-D6 branes in massive type IIA supergravity or anti-D3 branes smeared on the T-3 of R-3 x T-3 with fluxes) cannot be hidden behind a horizon and that the charge of black branes with smooth event horizons must have the same sign as the charge of the flux background. Our result indicates that infinitesimally blackening the antibranes immediately triggers brane-flux annihilation and strengthens the intuition that antibranes placed in flux with positive charge immediately annihilate against it.
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10.
  • Blåbäck, Johan, et al. (författare)
  • Fractional branes, warped compactifications and backreacted orientifold planes
  • 2012
  • Ingår i: Journal of High Energy Physics (JHEP). - 1126-6708 .- 1029-8479. ; 2012:10
  • Tidskriftsartikel (refereegranskat)abstract
    • The standard extremal p-brane solutions in supergravity are known to allow for a generalisation which consists of adding a linear dependence on the worldvolume coordinates to the usual harmonic function. In this note we demonstrate that remarkably this generalisation goes through in exactly the same way for p-branes with fluxes added to it that correspond to fractional p-branes. We relate this to warped orientifold compactifications by trading the Dp-branes for Op-planes that solve the RR tadpole condition. This allows us to interpret the worldvolume dependence as due to lower-dimensional scalars that flow along the massless directions in the no-scale potential. Depending on the details of the fluxes these flows can be supersymmetric domain wall flows. Our solutions provide explicit examples of backreacted orientifold planes in compactifications with non-constant moduli.
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