Download
1-s2.0-S2352396416303930-main.pdf 920,92KB
WeightNameValue
1000 Titel
  • Genetic Factors of the Disease Course After Sepsis: Rare Deleterious Variants Are Predictive
1000 Autor/in
  1. Taudien, Stefan |
  2. Lausser, Ludwig |
  3. Giamarellos-Bourboulis, Evangelos |
  4. Sponholz, Christoph |
  5. Schöneweck, Franziska |
  6. Felder, Marius |
  7. Schirra, Lyn-Rouven |
  8. Schmid, Florian |
  9. Gogos, Charalambos |
  10. Groth, Susann |
  11. Löscher, Britt-Sabina |
  12. Franke, Andre |
  13. Lieb, Wolfgang |
  14. Huse, Klaus |
  15. Zipfel, Peter |
  16. Kurzai, Oliver |
  17. Moepps, Barbara |
  18. Gierschik, Peter |
  19. Bauer, Michael |
  20. Scherag, André |
  21. Kestler, Hans |
  22. Platzer, Matthias |
1000 Erscheinungsjahr 2016
1000 LeibnizOpen
1000 Art der Datei
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2016-10-01
1000 Erschienen in
1000 Quellenangabe
  • 12:227-238
1000 FRL-Sammlung
1000 Copyrightjahr
  • 2016
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1016/j.ebiom.2016.08.037 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/27639823/ |
1000 Ergänzendes Material
  • https://www.sciencedirect.com/science/article/pii/S2352396416303930?via%3Dihub#s0130 |
1000 Publikationsstatus
1000 Begutachtungsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • Sepsis is a life-threatening organ dysfunction caused by dysregulated host response to infection. For its clinical course, host genetic factors are important and rare genomic variants are suspected to contribute. We sequenced the exomes of 59 Greek and 15 German patients with bacterial sepsis divided into two groups with extremely different disease courses. Variant analysis was focusing on rare deleterious single nucleotide variants (SNVs). We identified significant differences in the number of rare deleterious SNVs per patient between the ethnic groups. Classification experiments based on the data of the Greek patients allowed discrimination between the disease courses with estimated sensitivity and specificity > 75%. By application of the trained model to the German patients we observed comparable discriminatory properties despite lower population-specific rare SNV load. Furthermore, rare SNVs in genes of cell signaling and innate immunity related pathways were identified as classifiers discriminating between the sepsis courses. Sepsis patients with favorable disease course after sepsis, even in the case of unfavorable preconditions, seem to be affected more often by rare deleterious SNVs in cell signaling and innate immunity related pathways, suggesting a protective role of impairments in these processes against a poor disease course.
1000 Sacherschließung
lokal Exome
lokal Population stratification
lokal Classification
lokal Rare single nucleotide variation
lokal Sepsis
lokal Semantic set covering machine
1000 Fachgruppe
  1. Medizin |
  2. Biologie |
1000 Fächerklassifikation (DDC)
1000 Liste der Beteiligten
  1. https://frl.publisso.de/adhoc/creator/VGF1ZGllbiwgU3RlZmFu|https://frl.publisso.de/adhoc/creator/TGF1c3NlciwgTHVkd2ln|http://orcid.org/0000-0003-4713-3911|http://orcid.org/0000-0002-1746-7024|https://frl.publisso.de/adhoc/creator/U2Now7ZuZXdlY2ssIEZyYW56aXNrYQ==|https://frl.publisso.de/adhoc/creator/RmVsZGVyLCBNYXJpdXM=|https://frl.publisso.de/adhoc/creator/U2NoaXJyYSwgTHluLVJvdXZlbg==|https://frl.publisso.de/adhoc/creator/U2NobWlkLCBGbG9yaWFu|https://frl.publisso.de/adhoc/creator/R29nb3MsIENoYXJhbGFtYm9z|https://frl.publisso.de/adhoc/creator/R3JvdGgsIFN1c2Fubg==|http://orcid.org/0000-0001-9022-9017|https://frl.publisso.de/adhoc/creator/RnJhbmtlLCBBbmRyZQ==|https://frl.publisso.de/adhoc/creator/TGllYiwgV29sZmdhbmc=|http://orcid.org/0000-0003-3854-1884|http://orcid.org/0000-0002-6149-2411|http://orcid.org/0000-0002-7277-2646|https://frl.publisso.de/adhoc/creator/TW9lcHBzLCBCYXJiYXJh|https://frl.publisso.de/adhoc/creator/R2llcnNjaGlrLCBQZXRlcg==|https://frl.publisso.de/adhoc/creator/QmF1ZXIsIE1pY2hhZWw=|http://orcid.org/0000-0002-9406-4704|http://orcid.org/0000-0002-4759-5254|http://orcid.org/0000-0003-0596-8582
1000 Label
1000 Förderer
  1. German Federal Ministry of Education and Research (BMBF) |
  2. European Community |
  3. German Research Foundation (DFG) |
1000 Fördernummer
  1. 01EO1002; 01EO1502; 01EY1103; 0315894A
  2. no602783
  3. SFB 1074 project Z1
1000 Förderprogramm
  1. Center for Sepsis Control and Care, CSCC; Popgen 2.0 Network, P2N; Gerontosys II, Forschungskern SyStaR,
  2. FP7/2007–2013
  3. Excellence Cluster 306 “Inflammation at Interfaces”
1000 Dateien
1000 Förderung
  1. 1000 joinedFunding-child
    1000 Förderer German Federal Ministry of Education and Research (BMBF) |
    1000 Förderprogramm Center for Sepsis Control and Care, CSCC; Popgen 2.0 Network, P2N; Gerontosys II, Forschungskern SyStaR,
    1000 Fördernummer 01EO1002; 01EO1502; 01EY1103; 0315894A
  2. 1000 joinedFunding-child
    1000 Förderer European Community |
    1000 Förderprogramm FP7/2007–2013
    1000 Fördernummer no602783
  3. 1000 joinedFunding-child
    1000 Förderer German Research Foundation (DFG) |
    1000 Förderprogramm Excellence Cluster 306 “Inflammation at Interfaces”
    1000 Fördernummer SFB 1074 project Z1
1000 Objektart article
1000 Beschrieben durch
1000 @id frl:6408243.rdf
1000 Erstellt am 2018-06-07T10:27:20.668+0200
1000 Erstellt von 285
1000 beschreibt frl:6408243
1000 Bearbeitet von 25
1000 Zuletzt bearbeitet Thu Jan 30 21:32:40 CET 2020
1000 Objekt bearb. Fri Jun 08 08:10:49 CEST 2018
1000 Vgl. frl:6408243
1000 Oai Id
  1. oai:frl.publisso.de:frl:6408243 |
1000 Sichtbarkeit Metadaten public
1000 Sichtbarkeit Daten public
1000 Gegenstand von

View source