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  • Result 1-10 of 142
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1.
  • Kanai, M, et al. (author)
  • 2023
  • swepub:Mat__t
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  • Niemi, MEK, et al. (author)
  • 2021
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  • 2017
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  • de Rojas, I., et al. (author)
  • Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
  • 2021
  • In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1
  • Journal article (peer-reviewed)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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10.
  • Blokland, G. A. M., et al. (author)
  • Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders
  • 2022
  • In: Biological Psychiatry. - : Elsevier BV. - 0006-3223 .- 1873-2402. ; 91:1, s. 102-117
  • Journal article (peer-reviewed)abstract
    • Background: Sex differences in incidence and/or presentation of schizophrenia (SCZ), major depressive disorder (MDD), and bipolar disorder (BIP) are pervasive. Previous evidence for shared genetic risk and sex differences in brain abnormalities across disorders suggest possible shared sex-dependent genetic risk. Methods: We conducted the largest to date genome-wide genotype-by-sex (G×S) interaction of risk for these disorders using 85,735 cases (33,403 SCZ, 19,924 BIP, and 32,408 MDD) and 109,946 controls from the PGC (Psychiatric Genomics Consortium) and iPSYCH. Results: Across disorders, genome-wide significant single nucleotide polymorphism–by-sex interaction was detected for a locus encompassing NKAIN2 (rs117780815, p = 3.2 × 10−8), which interacts with sodium/potassium-transporting ATPase (adenosine triphosphatase) enzymes, implicating neuronal excitability. Three additional loci showed evidence (p < 1 × 10−6) for cross-disorder G×S interaction (rs7302529, p = 1.6 × 10−7; rs73033497, p = 8.8 × 10−7; rs7914279, p = 6.4 × 10−7), implicating various functions. Gene-based analyses identified G×S interaction across disorders (p = 8.97 × 10−7) with transcriptional inhibitor SLTM. Most significant in SCZ was a MOCOS gene locus (rs11665282, p = 1.5 × 10−7), implicating vascular endothelial cells. Secondary analysis of the PGC-SCZ dataset detected an interaction (rs13265509, p = 1.1 × 10−7) in a locus containing IDO2, a kynurenine pathway enzyme with immunoregulatory functions implicated in SCZ, BIP, and MDD. Pathway enrichment analysis detected significant G×S interaction of genes regulating vascular endothelial growth factor receptor signaling in MDD (false discovery rate-corrected p < .05). Conclusions: In the largest genome-wide G×S analysis of mood and psychotic disorders to date, there was substantial genetic overlap between the sexes. However, significant sex-dependent effects were enriched for genes related to neuronal development and immune and vascular functions across and within SCZ, BIP, and MDD at the variant, gene, and pathway levels. © 2021 Society of Biological Psychiatry
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  • Result 1-10 of 142
Type of publication
journal article (134)
research review (5)
Type of content
peer-reviewed (137)
other academic/artistic (2)
Author/Editor
Pennell, Craig E (24)
McCarthy, Mark I (20)
Hofman, Albert (19)
Uitterlinden, André ... (19)
Hansen, Torben (16)
Zeggini, Eleftheria (16)
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Raitakari, Olli T (15)
Pedersen, Oluf (15)
Hakonarson, Hakon (15)
Rivadeneira, Fernand ... (15)
Wareham, Nicholas J. (14)
Linneberg, Allan (14)
Rotter, Jerome I. (14)
Hattersley, Andrew T (14)
Mahajan, Anubha (14)
Gill, M. (14)
Maier, W (14)
Elliott, Paul (14)
Frayling, Timothy M (14)
Lind, Lars (13)
Nothen, MM (13)
Mohlke, Karen L (13)
Gudnason, Vilmundur (13)
Ntalla, Ioanna (13)
Montgomery, GW (12)
Ripke, S (12)
Ikram, M. Arfan (12)
van Duijn, Cornelia ... (12)
Langenberg, Claudia (12)
Metspalu, Andres (12)
Timpson, Nicholas J. (12)
Salomaa, Veikko (11)
Hoffmann, P (11)
Martin, NG (11)
Ikram, MA (11)
Deloukas, Panos (11)
North, Kari E. (11)
Franks, Paul W. (11)
Grarup, Niels (11)
Boehnke, Michael (11)
Bauer, M (11)
Barroso, Ines (11)
Metspalu, A (11)
Lehtimaki, Terho (11)
O'Donovan, MC (11)
Owen, MJ (11)
Loos, Ruth J F (11)
Ring, Susan M (11)
Hirschhorn, Joel N. (11)
Wang, Carol A (11)
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University
Karolinska Institutet (54)
Uppsala University (46)
University of Gothenburg (40)
Lund University (37)
Umeå University (32)
Stockholm University (26)
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Swedish University of Agricultural Sciences (7)
Chalmers University of Technology (6)
Linköping University (5)
Mid Sweden University (5)
Royal Institute of Technology (4)
Högskolan Dalarna (4)
Luleå University of Technology (3)
Örebro University (3)
Kristianstad University College (1)
Halmstad University (1)
Jönköping University (1)
University of Skövde (1)
Linnaeus University (1)
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Language
English (142)
Research subject (UKÄ/SCB)
Medical and Health Sciences (79)
Natural sciences (47)
Social Sciences (5)
Agricultural Sciences (3)
Engineering and Technology (2)

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