Sökning: onr:"swepub:oai:DiVA.org:liu-202326" > Whole genome case-c...
Fältnamn | Indikatorer | Metadata |
---|---|---|
000 | 05852naa a2200505 4500 | |
001 | oai:DiVA.org:liu-202326 | |
003 | SwePub | |
008 | 240411s2024 | |||||||||||000 ||eng| | |
009 | oai:DiVA.org:umu-222230 | |
009 | oai:DiVA.org:uu-526190 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-2023262 URI |
024 | 7 | a https://doi.org/10.1371/journal.pone.02990752 DOI |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-2222302 URI |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5261902 URI |
040 | a (SwePub)liud (SwePub)umud (SwePub)uu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Ås, Joelu Uppsala universitet,Klinisk farmakogenomik och osteoporos,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden4 aut0 (Swepub:uu)joeas829 |
245 | 1 0 | a Whole genome case-control study of central nervous system toxicity due to antimicrobial drugs |
264 | 1 | b PUBLIC LIBRARY SCIENCE,c 2024 |
338 | a print2 rdacarrier | |
500 | a Funding Agencies|Knut and Alice Wallenberg Foundation [NP:00085]; Swedish Research Council [521-2011-2440, 521-2014-3370, 2018-03307]; Clinical Research Support (Avtal om Lakarutbildning och Forskning, ALF) at Uppsala University | |
520 | a A genetic predisposition to central nervous system (CNS) toxicity induced by antimicrobial drugs (antibiotics, antivirals, antifungals, and antiparasitic drugs) has been suspected. Whole genome sequencing of 66 cases and 833 controls was performed to investigate whether antimicrobial drug-induced CNS toxicity was associated with genetic variation. The primary objective was to test whether antimicrobial-induced CNS toxicity was associated with seventeen efflux transporters at the blood-brain barrier. In this study, variants or structural elements in efflux transporters were not significantly associated with CNS toxicity. Secondary objectives were to test whether antimicrobial-induced CNS toxicity was associated with genes over the whole genome, with HLA, or with structural genetic variation. Uncommon variants in and close to three genes were significantly associated with CNS toxicity according to a sequence kernel association test combined with an optimal unified test (SKAT-O). These genes were LCP1 (q = 0.013), RETSAT (q = 0.013) and SFMBT2 (q = 0.035). Two variants were driving the LCP1 association: rs6561297 (p = 1.15x10-6, OR: 4.60 [95% CI: 2.51-8.46]) and the regulatory variant rs10492451 (p = 1.15x10-6, OR: 4.60 [95% CI: 2.51-8.46]). No common genetic variant, HLA-type or structural variation was associated with CNS toxicity. In conclusion, CNS toxicity due to antimicrobial drugs was associated with uncommon variants in LCP1, RETSAT and SFMBT2. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Farmakologi och toxikologi0 (SwePub)301022 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Pharmacology and Toxicology0 (SwePub)301022 hsv//eng |
700 | 1 | a Bertulyte, Ilmau Uppsala universitet,Klinisk farmakogenomik och osteoporos,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden4 aut0 (Swepub:uu)ilmbe876 |
700 | 1 | a Norgren, Ninau Umeå universitet,Institutionen för molekylärbiologi (Medicinska fakulteten),Department of Molecular Biology, National Bioinformatics Infrastructure Sweden, Science for Life Laboratory, Umeå University, Umeå, Sweden,Uppsala Univ, Sweden4 aut0 (Swepub:umu)niakan04 |
700 | 1 | a Johansson, Annau Uppsala universitet,Science for Life Laboratory, SciLifeLab,Molekylär evolution,Uppsala Univ, Sweden4 aut0 (Swepub:uu)anjoh226 |
700 | 1 | a Eriksson, Niclas,d 1978-u Uppsala universitet,Uppsala kliniska forskningscentrum (UCR),Klinisk farmakogenomik och osteoporos,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden; Uppsala Clin Res Ctr, Sweden4 aut0 (Swepub:uu)nieri103 |
700 | 1 | a Green, Henriku Linköpings universitet,Avdelningen för klinisk kemi och farmakologi,Medicinska fakulteten,Linköping Univ, Dept Biomed & Clin Sci, Div Clin Chem & Pharmacol, Linköping, Sweden.;Natl Board Forens Med, Dept Forens Genet & Forens Toxicol, Linköping, Sweden.,Division of Clinical Chemistry and Pharmacology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden; Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden4 aut0 (Swepub:liu)hengr89 |
700 | 1 | a Wadelius, Miau Uppsala universitet,Klinisk farmakogenomik och osteoporos,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden4 aut0 (Swepub:uu)miawadel |
700 | 1 | a Hallberg, Pär,d 1974-u Uppsala universitet,Klinisk farmakogenomik och osteoporos,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden4 aut0 (Swepub:uu)pahal677 |
710 | 2 | a Uppsala universitetb Klinisk farmakogenomik och osteoporos4 org |
773 | 0 | t PLOS ONEd : PUBLIC LIBRARY SCIENCEg 19:2q 19:2x 1932-6203 |
856 | 4 | u https://doi.org/10.1371/journal.pone.0299075y Fulltext |
856 | 4 | u https://umu.diva-portal.org/smash/get/diva2:1844729/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1849258/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-202326 |
856 | 4 8 | u https://doi.org/10.1371/journal.pone.0299075 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-222230 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-526190 |
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