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Sökning: WFRF:(Olafsson JH)

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  • Olafsson, S, et al. (författare)
  • Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations
  • 2017
  • Ingår i: NPJ genomic medicine. - : Springer Science and Business Media LLC. - 2056-7944. ; 2, s. 24-
  • Tidskriftsartikel (refereegranskat)abstract
    • A meta-analysis of publicly available summary statistics on multiple sclerosis combined with three Nordic multiple sclerosis cohorts (21,079 cases, 371,198 controls) revealed seven sequence variants associating with multiple sclerosis, not reported previously. Using polygenic risk scores based on public summary statistics of variants outside the major histocompatibility complex region we quantified genetic overlap between common autoimmune diseases in Icelanders and identified disease clusters characterized by autoantibody presence/absence. As multiple sclerosis-polygenic risk scores captures the risk of primary biliary cirrhosis and vice versa (P = 1.6 × 10−7, 4.3 × 10−9) we used primary biliary cirrhosis as a proxy-phenotype for multiple sclerosis, the idea being that variants conferring risk of primary biliary cirrhosis have a prior probability of conferring risk of multiple sclerosis. We tested 255 variants forming the primary biliary cirrhosis-polygenic risk score and found seven multiple sclerosis-associating variants not correlated with any previously established multiple sclerosis variants. Most of the variants discovered are close to or within immune-related genes. One is a low-frequency missense variant in TYK2, another is a missense variant in MTHFR that reduces the function of the encoded enzyme affecting methionine metabolism, reported to be dysregulated in multiple sclerosis brain.
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  • Flyvholm, M-A, et al. (författare)
  • Nordic Occupational Skin Questionnaire - NOSQ
  • 2002
  • Rapport (övrigt vetenskapligt/konstnärligt)abstract
    • Questionnaires for surveying work-related skin diseases and exposures have been designed in the Nordic Occupational Skin Questionnaire (NOSQ) project. NOSQ-2002/SHORT is a short, ready-to-use questionnaire for screening and monitoring occupational skin diseases on hands and forearms. NOSQ-2002/LONG is a longer, more in-depth questionnaire for surveying hand dermatitis and risk factors in workplaces or in a population. The Nordic Council of Ministers has the copyright to the NOSQ-2002 questionnaires. Use of the questionnaires is free of charge. The NOSQ-2002 questionnaires and their present and possible future translations cannot be used commercially. The NOSQ-2002 report includes a review of pertinent literature on questionnaire methods for skin disease studies and the NOSQ-2002/INFO version of the questionnaire including instructions and recommendations to researchers and guidelines for modification.
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  • Huiberts, JN, et al. (författare)
  • Synthesis of yttriumtrihydride films for ex-situ measurements
  • 1996
  • Ingår i: JOURNAL OF ALLOYS AND COMPOUNDS. - : ELSEVIER SCIENCE SA LAUSANNE. - 0925-8388. ; 239:2, s. 158-171
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
    • A new method has been developed to synthesize compact yttriumtrihydride by making use of a thin film technique. For electrical measurements yttrium films of typically 500 nm thickness are covered under UHV conditions by a 5 nm thick palladium overlayer wh
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  • Resultat 1-10 av 13

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