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Sökning: WFRF:(Alcolea D) > Tidskriftsartikel

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  • de Rojas, I., et al. (författare)
  • Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
  • 2021
  • Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease. © 2021, The Author(s).
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  • Bellenguez, C, et al. (författare)
  • New insights into the genetic etiology of Alzheimer's disease and related dementias
  • 2022
  • Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 54:4, s. 412-436
  • Tidskriftsartikel (refereegranskat)abstract
    • Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele.
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  • van der Lee, S. J., et al. (författare)
  • A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity
  • 2019
  • Ingår i: Acta Neuropathologica. - : Springer Science and Business Media LLC. - 0001-6322 .- 1432-0533. ; 138:2, s. 237-250
  • Tidskriftsartikel (refereegranskat)abstract
    • The genetic variant rs72824905-G (minor allele) in the PLCG2 gene was previously associated with a reduced Alzheimer's disease risk (AD). The role of PLCG2 in immune system signaling suggests it may also protect against other neurodegenerative diseases and possibly associates with longevity. We studied the effect of the rs72824905-G on seven neurodegenerative diseases and longevity, using 53,627 patients, 3,516 long-lived individuals and 149,290 study-matched controls. We replicated the association of rs72824905-G with reduced AD risk and we found an association with reduced risk of dementia with Lewy bodies (DLB) and frontotemporal dementia (FTD). We did not find evidence for an effect on Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) risks, despite adequate sample sizes. Conversely, the rs72824905-G allele was associated with increased likelihood of longevity. By-proxy analyses in the UK Biobank supported the associations with both dementia and longevity. Concluding, rs72824905-G has a protective effect against multiple neurodegenerative diseases indicating shared aspects of disease etiology. Our findings merit studying the PLC gamma 2 pathway as drug-target.
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  • Bujarrabal, V., et al. (författare)
  • Herschel/HIFI observations of high-J CO transitions in the protoplanetary nebula CRL 618
  • 2010
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 521:1, s. Article Number: L3-
  • Tidskriftsartikel (refereegranskat)abstract
    • Aims. We aim to study the physical conditions, particularly the excitation state, of the intermediate-temperature gas components in the protoplanetary nebula CRL 618. These components are particularly important for understanding the evolution of the nebula. Methods. We performed Herschel/HIFI observations of several CO lines in the far-infrared/sub-mm in the protoplanetary nebula CRL 618. The high spectral resolution provided by HIFI allows measurement of the line profiles. Since the dynamics and structure of the nebula is well known from mm-wave interferometric maps, it is possible to identify the contributions of the different nebular components (fast bipolar outflows, double shells, compact slow shell) to the line profiles. The observation of these relatively high-energy transitions allows an accurate study of the excitation conditions in these components, particularly in the warm ones, which cannot be properly studied from the low-energy lines. Results. The (CO)-C-12 J = 16-15, 10-9, and 6-5 lines are easily detected in this source. Both (CO)-C-13 J = 10-9 and 6-5 are also detected. Wide profiles showing spectacular line wings have been found, particularly in (CO)-C-12 J = 16-15. Other lines observed simultaneously with CO are also shown. Our analysis of the CO high-J transitions, when compared with the existing models, confirms the very low expansion velocity of the central, dense component, which probably indicates that the shells ejected during the last AGB phases were driven by radiation pressure under a regime of maximum transfer of momentum. No contribution of the diffuse halo found from mm-wave data is identified in our spectra, because of its low temperature. We find that the fast bipolar outflow is quite hot, much hotter than previously estimated; for instance, gas flowing at 100 km s(-1) must have a temperature higher than similar to 200 K. Probably, this very fast outflow, with a kinematic age
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  • Decin, L., et al. (författare)
  • Water content and wind acceleration in the envelope around the oxygen-rich AGB star IK Tauri as seen by Herschel/HIFI
  • 2010
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 521:1, s. Article Number: L4-
  • Tidskriftsartikel (refereegranskat)abstract
    • During their asymptotic giant branch evolution, low-mass stars lose a significant fraction of their mass through an intense wind, enriching the interstellar medium with products of nucleosynthesis. We observed the nearby oxygen-rich asymptotic giant branch star IK Tau using the high-resolution HIFI spectrometer onboard Herschel. We report on the first detection of (H2O)-O-16 and the rarer isotopologues (H2O)-O-17 and (H2O)-O-18 in both the ortho and para states. We deduce a total water content (relative to molecular hydrogen) of 6.6 x 10(-5), and an ortho-to-para ratio of 3:1. These results are consistent with the formation of H2O in thermodynamical chemical equilibrium at photospheric temperatures, and does not require pulsationally induced non-equilibrium chemistry, vaporization of icy bodies or grain surface reactions. High-excitation lines of (CO)-C-12, (CO)-C-13, (SiO)-Si-28, (SiO)-Si-29, (SiO)-Si-30, HCN, and SO have also been detected. From the observed line widths, the acceleration region in the inner wind zone can be characterized, and we show that the wind acceleration is slower than hitherto anticipated.
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  • Alcolea, J., et al. (författare)
  • HIFISTARS Herschel/HIFI observations of VY Canis Majoris. Molecular-line inventory of the envelope around the largest known star
  • 2013
  • Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 559, s. (article nr.) A93-
  • Tidskriftsartikel (refereegranskat)abstract
    • Aims.The study of the molecular gas in the circumstellar envelopes of evolved stars is normally undertaken by observing lines ofCO (and other species) in the millimetre-wave domain. In general, the excitation requirements of the observed lines are low at thesewavelengths, and therefore these observations predominantly probe the cold outer envelope while studying the warm inner regions ofthe envelopes normally requires sub-millimetre (sub-mm) and far-infrared (FIR) observational data.Methods.To gain insight into the physical conditions and kinematics of the warm (100–1000 K) gas around the red hyper-giantVY CMa, we performed sensitive high spectral resolution observations of molecular lines in the sub-mm/FIR using the HIFI instru-ment of theHerschelSpace Observatory. We observed CO, H2O, and other molecular species, sampling excitation energies from afew tens to a few thousand K. These observations are part of theHerschelguaranteed time key program HIFISTARS.Results.We detected theJ=6–5,J=10–9, andJ=16–15 lines of12CO and13CO at∼100, 300, and 750 K above the groundstate (and the13COJ=9–8 line). These lines are crucial for improving the modelling of the internal layers of the envelope aroundVY CMa. We also detected 27 lines of H2O and its isotopomers, and 96 lines of species such as NH3,SiO,SO,SO2HCN, OH andothers, some of them originating from vibrationally excited levels. Three lines were not unambiguously assigned.Conclusions.Our observations confirm that VY CMa’s envelope must consist of two or more detached components. The molecularexcitation in the outer layers is significantly lower than in the inner ones, resulting in strong self-absorbed profiles in molecular linesthat are optically thick in this outer envelope, for instance, low-lying lines of H2O. Except for the most abundant species, CO and H2O,most of the molecular emission detected at these sub-mm/FIR wavelengths arise from the central parts of the envelope. The spectrumof VY CMa is very prominent in vibrationally excited lines, which are caused by the strong IR pumping present in the central regions.Compared with envelopes of other massive evolved stars, VY CMa’s emission is particularly strong in these vibrationally excitedlines, as well as in the emission from less abundant species such as H13CN, SO, and NH3.
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