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Sökning: id:"swepub:oai:DiVA.org:umu-222230" > Whole genome case-c...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004908naa a2200433 4500
001oai:DiVA.org:umu-222230
003SwePub
008240314s2024 | |||||||||||000 ||eng|
009oai:DiVA.org:uu-526190
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-2222302 URI
0247 a https://doi.org/10.1371/journal.pone.02990752 DOI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5261902 URI
040 a (SwePub)umud (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Ås, Joelu Uppsala universitet,Klinisk farmakogenomik och osteoporos,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)joeas829
2451 0a Whole genome case-control study of central nervous system toxicity due to antimicrobial drugs
264 1b Public Library of Science (PLoS),c 2024
338 a electronic2 rdacarrier
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 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Farmakologi och toxikologi0 (SwePub)301022 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Pharmacology and Toxicology0 (SwePub)301022 hsv//eng
7001 a Bertulyte, Ilmau Uppsala universitet,Klinisk farmakogenomik och osteoporos,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)ilmbe876
7001 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, Sweden4 aut0 (Swepub:umu)niakan04
7001 a Johansson, Annau Uppsala universitet,Science for Life Laboratory, SciLifeLab,Molekylär evolution4 aut0 (Swepub:uu)anjoh226
7001 a Eriksson, Niclas,d 1978-u Uppsala universitet,Uppsala kliniska forskningscentrum (UCR),Klinisk farmakogenomik och osteoporos,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)nieri103
7001 a Green, Henriku 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, Sweden,Linköping Univ, Dept Biomed & Clin Sci, Div Clin Chem & Pharmacol, Linköping, Sweden.;Natl Board Forens Med, Dept Forens Genet & Forens Toxicol, Linköping, Sweden.4 aut
7001 a Wadelius, Miau Uppsala universitet,Klinisk farmakogenomik och osteoporos,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)miawadel
7001 a Hallberg, Pär,d 1974-u Uppsala universitet,Klinisk farmakogenomik och osteoporos,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)pahal677
7102 a Uppsala universitetb Klinisk farmakogenomik och osteoporos4 org
7730 t PLOS ONEd : Public Library of Science (PLoS)g 19:2q 19:2x 1932-6203
8564 u https://doi.org/10.1371/journal.pone.0299075y Fulltext
8564 u https://umu.diva-portal.org/smash/get/diva2:1844729/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u https://uu.diva-portal.org/smash/get/diva2:1849258/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-222230
8564 8u https://doi.org/10.1371/journal.pone.0299075
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-526190

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