SwePub
Tyck till om SwePub Sök här!
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Nauck Matthias) "

Sökning: WFRF:(Nauck Matthias)

  • Resultat 41-42 av 42
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
41.
  • van der Harst, Pim, et al. (författare)
  • Seventy-five genetic loci influencing the human red blood cell
  • 2012
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 492:7429, s. 369-375
  • Tidskriftsartikel (refereegranskat)abstract
    • Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cells, we carried out a genome-wide association study of haemoglobin concentration and related parameters in up to 135,367 individuals. Here we identify 75 independent genetic loci associated with one or more red blood cell phenotypes at P < 10(-8), which together explain 4-9% of the phenotypic variance per trait. Using expression quantitative trait loci and bioinformatic strategies, we identify 121 candidate genes enriched in functions relevant to red blood cell biology. The candidate genes are expressed preferentially in red blood cell precursors, and 43 have haematopoietic phenotypes in Mus musculus or Drosophila melanogaster. Through open-chromatin and coding-variant analyses we identify potential causal genetic variants at 41 loci. Our findings provide extensive new insights into genetic mechanisms and biological pathways controlling red blood cell formation and function.
  •  
42.
  • Young, William J., et al. (författare)
  • Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways
  • 2022
  • Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 13
  • Tidskriftsartikel (refereegranskat)abstract
    • The QT interval is a heritable electrocardiographic measure associated with arrhythmia risk when prolonged. Here, the authors used a series of genetic analyses to identify genetic loci, pathways, therapeutic targets, and relationships with cardiovascular disease. The QT interval is an electrocardiographic measure representing the sum of ventricular depolarization and repolarization, estimated by QRS duration and JT interval, respectively. QT interval abnormalities are associated with potentially fatal ventricular arrhythmia. Using genome-wide multi-ancestry analyses (>250,000 individuals) we identify 177, 156 and 121 independent loci for QT, JT and QRS, respectively, including a male-specific X-chromosome locus. Using gene-based rare-variant methods, we identify associations with Mendelian disease genes. Enrichments are observed in established pathways for QT and JT, and previously unreported genes indicated in insulin-receptor signalling and cardiac energy metabolism. In contrast for QRS, connective tissue components and processes for cell growth and extracellular matrix interactions are significantly enriched. We demonstrate polygenic risk score associations with atrial fibrillation, conduction disease and sudden cardiac death. Prioritization of druggable genes highlight potential therapeutic targets for arrhythmia. Together, these results substantially advance our understanding of the genetic architecture of ventricular depolarization and repolarization.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 41-42 av 42
Typ av publikation
tidskriftsartikel (42)
Typ av innehåll
refereegranskat (40)
övrigt vetenskapligt/konstnärligt (2)
Författare/redaktör
Uitterlinden, André ... (18)
Harris, Tamara B (17)
van Duijn, Cornelia ... (15)
Gieger, Christian (15)
Hayward, Caroline (15)
Gudnason, Vilmundur (15)
visa fler...
Smith, Albert V (15)
Liu, Yongmei (14)
Campbell, Harry (13)
Rudan, Igor (13)
Wilson, James F. (13)
Homuth, Georg (13)
Hofman, Albert (13)
Psaty, Bruce M (13)
Polasek, Ozren (13)
Boerwinkle, Eric (13)
Ferrucci, Luigi (13)
Raitakari, Olli T (12)
Chasman, Daniel I. (12)
Rotter, Jerome I. (12)
Metspalu, Andres (12)
Pramstaller, Peter P ... (12)
Schmidt, Reinhold (12)
Schmidt, Helena (12)
Rivadeneira, Fernand ... (12)
Launer, Lenore J (12)
Voelzke, Henry (12)
Ridker, Paul M. (11)
Chu, Audrey Y (11)
Meitinger, Thomas (11)
Loos, Ruth J F (11)
Vitart, Veronique (11)
Coresh, Josef (11)
Li, Man (11)
Esko, Tõnu (11)
Salomaa, Veikko (10)
Strauch, Konstantin (10)
Waldenberger, Melani ... (10)
Gyllensten, Ulf (10)
Deary, Ian J (10)
Kovacs, Peter (10)
Koenig, Wolfgang (10)
Meisinger, Christa (10)
Heid, Iris M (10)
Pattaro, Cristian (10)
Tanaka, Toshiko (10)
Dehghan, Abbas (10)
Vollenweider, Peter (10)
Feitosa, Mary F. (10)
Nolte, Ilja M. (10)
visa färre...
Lärosäte
Uppsala universitet (29)
Lunds universitet (14)
Karolinska Institutet (12)
Umeå universitet (9)
Göteborgs universitet (4)
Luleå tekniska universitet (2)
visa fler...
Linköpings universitet (2)
Högskolan Dalarna (2)
Stockholms universitet (1)
visa färre...
Språk
Engelska (42)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (33)
Naturvetenskap (6)
Samhällsvetenskap (1)

År

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy