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Tidskriftsartikel (refereegranskat)
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- Khatri, B., et al.
(författare)
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Genome-wide association study identifies Sjogren's risk loci with functional implications in immune and glandular cells
- 2022
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 13:1
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Tidskriftsartikel (refereegranskat)abstract
- Sjogren's disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjogren's cases of European ancestry: CD247, NAB1, PTTG1-MIR146A, PRDM1-ATG5, TNFAIP3, XKR6, MAPT-CRHR1, RPTOR-CHMP6-BAIAP6, TYK2, SYNGR1. Polygenic risk scores yield predictability (AUROC = 0.71) and relative risk of 12.08. Interrogation of bioinformatics databases refine the associations, define local regulatory networks of GWS SNPs from the 95% credible set, and expand the implicated gene list to >40. Many GWS SNPs are eQTLs for genes within topologically associated domains in immune cells and/or eQTLs in the main target tissue, salivary glands. The genetic architecture underlying Sjogren's syndrome is not fully understood. Here, the authors perform a genome-wide association study to identify 10 new genetic risk regions, implicating genes involved in immune and salivary gland function.
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- Simancas, J.F., et al.
(författare)
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The seismic crustal structure of the Ossa-Morena Zone and its geological interpretation
- 2004
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Ingår i: Journal of Iberian Geology. - 1698-6180 .- 1886-7995. ; 30, s. 133-142
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Tidskriftsartikel (refereegranskat)abstract
- The IBERSEIS deep reflection seismic experiment has provided a crustal image of the Variscan orogen of southwest Iberia. A brief presentation of the entire seismic profile is given, and then the Ossa-Morena Zone (OMZ) and its boundaries are considered. The crust of the OMZ is shown to be divided into an upper crust, characterized by dominantly NE-dipping reflectivity, and a poorly reflective lower crust. The reflectivity of the upper crust has good correlation with the geological cross-section constructed from surface mapping. In the seismic image, the upper crustal geological structures are seen to merge in the middle crust. Nevertheless, the OMZ middle crust is not a mere detachment level, as it shows very unusual features: it appears as a band of strong reflectivity and irregular thickness (the Iberian Reflective Body, IRB) that we interpret as a great sill-like intrusion of basic rocks. The boundaries of the OMZ are considered sutures of the orogen, and their geometrical features, as deduced from geological mapping and the seismic image, are in accordance with the transpressional character of the Variscan collision recorded in SW Iberia. The present Moho is flat, obliterating the root of the orogen.
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- Andersson, Peter, 1975, et al.
(författare)
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Cylindrical ionization chamber response in static and dynamic 6 and 15 MV photon beams
- 2023
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Ingår i: Biomedical Engineering & Physics Express. - : Institute of Physics. - 2057-1976. ; 9:2
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Tidskriftsartikel (refereegranskat)abstract
- Purpose. To investigate the response of the CC13 ionization chamber under non-reference photon beam conditions, focusing on penumbra and build-up regions of static fields and on dynamic intensity-modulated beams. Methods. Measurements were performed in 6 MV 100 × 100, 20 × 100, and 20 × 20 mm2 static fields. Monte Carlo calculations were performed for the static fields and for 6 and 15 MV dynamic beam sequences using a Varian multi-leaf collimator. The chamber was modelled using EGSnrc egs_chamber software. Conversion factors were calculated by relating the absorbed dose to air in the chamber air cavity to the absorbed dose to water. Correction and point-dose correction factors were calculated to quantify the conversion factor variations. Results. The correction factors for positions on the beam central axis and at the penumbra centre were 0.98-1.02 for all static fields and depths investigated. The largest corrections were obtained for chamber positions beyond penumbra centre in the off-axis direction. Point-dose correction factors were 0.54-0.71 at 100 mm depth and their magnitude increased with decreasing field size and measurement depth. Factors of 0.99-1.03 were obtained inside and near the integrated penumbra of the dynamic field at 100 mm depth, and of 0.92-0.94 beyond the integrated penumbra centre. The variations in the ionization chamber response across the integrated dynamic penumbra qualitatively followed the behaviour across penumbra of static fields. Conclusions. Without corrections, the CC13 chamber was of limited usefulness for profile measurements in 20-mm-wide fields. However, measurements in dynamic small irregular beam openings resembling the conditions of pre-treatment patient quality assurance were feasible. Uncorrected ionization chamber response could be applied for dose verification at 100 mm depth inside and close to large gradients of dynamically accumulating high- and low-dose regions assuming 3% tolerance between measured and calculated doses. © 2023 The Author(s).
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- Dahlqvist, Johanna, 1979-, et al.
(författare)
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Identification and functional characterization of a novel susceptibility locus for small vessel vasculitis with MPO-ANCA
- 2022
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Ingår i: Rheumatology. - Oxford, United Kingdom : Oxford University Press (OUP). - 1462-0324 .- 1462-0332. ; 61:8, s. 3461-3470
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Tidskriftsartikel (refereegranskat)abstract
- Objective To identify and characterize genetic loci associated with the risk of developing ANCA-associated vasculitides (AAV). Methods Genetic association analyses were performed after Illumina sequencing of 1853 genes and subsequent replication with genotyping of selected single nucleotide polymorphisms in a total cohort of 1110 Scandinavian cases with granulomatosis with polyangiitis or microscopic polyangiitis, and 1589 controls. A novel AAV-associated single nucleotide polymorphism was analysed for allele-specific effects on gene expression using luciferase reporter assay. Results PR3-ANCA(+) AAV was significantly associated with two independent loci in the HLA-DPB1/HLA-DPA1 region [rs1042335, P = 6.3 x 10(-61), odds ratio (OR) 0.10; rs9277341, P = 1.5 x 10(-44), OR 0.22] and with rs28929474 in the SERPINA1 gene (P = 2.7 x 10(-10), OR 2.9). MPO-ANCA(+) AAV was significantly associated with the HLA-DQB1/HLA-DQA2 locus (rs9274619, P = 5.4 x 10(-25), OR 3.7) and with a rare variant in the BACH2 gene (rs78275221, P = 7.9 x 10(-7), OR 3.0), the latter a novel susceptibility locus for MPO-ANCA(+) granulomatosis with polyangiitis/microscopic polyangiitis. The rs78275221-A risk allele reduced luciferase gene expression in endothelial cells, specifically, as compared with the non-risk allele. Conclusion We identified a novel susceptibility locus for MPO-ANCA(+) AAV and propose that the associated variant is of mechanistic importance, exerting a regulatory function on gene expression in specific cell types.
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