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

  Utökad sökning

Träfflista för sökning "WFRF:(Ehret Georg B.) "

Sökning: WFRF:(Ehret Georg B.)

  • Resultat 21-23 av 23
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
21.
  •  
22.
  • Stitziel, Nathan O., et al. (författare)
  • Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease
  • 2016
  • Ingår i: New England Journal of Medicine. - 0028-4793 .- 1533-4406. ; 374:12, s. 1134-1144
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND The discovery of low-frequency coding variants affecting the risk of coronary artery disease has facilitated the identification of therapeutic targets. METHODS Through DNA genotyping, we tested 54,003 coding-sequence variants covering 13,715 human genes in up to 72,868 patients with coronary artery disease and 120,770 controls who did not have coronary artery disease. Through DNA sequencing, we studied the effects of loss-of-function mutations in selected genes. RESULTS We confirmed previously observed significant associations between coronary artery disease and low-frequency missense variants in the genes LPA and PCSK9. We also found significant associations between coronary artery disease and low-frequency missense variants in the genes SVEP1 (p.D2702G; minor-allele frequency, 3.60%; odds ratio for disease, 1.14; P = 4.2x10(-10)) and ANGPTL4 (p.E40K; minor-allele frequency, 2.01%; odds ratio, 0.86; P = 4.0x10(-8)), which encodes angiopoietin-like 4. Through sequencing of ANGPTL4, we identified 9 carriers of loss-of-function mutations among 6924 patients with myocardial infarction, as compared with 19 carriers among 6834 controls (odds ratio, 0.47; P = 0.04); carriers of ANGPTL4 loss-of-function alleles had triglyceride levels that were 35% lower than the levels among persons who did not carry a loss-of-function allele (P = 0.003). ANGPTL4 inhibits lipoprotein lipase; we therefore searched for mutations in LPL and identified a loss-of-function variant that was associated with an increased risk of coronary artery disease (p.D36N; minor-allele frequency, 1.9%; odds ratio, 1.13; P = 2.0x10(-4)) and a gain-of-function variant that was associated with protection from coronary artery disease (p.S447*; minor-allele frequency, 9.9%; odds ratio, 0.94; P = 2.5x10(-7)). CONCLUSIONS We found that carriers of loss-of-function mutations in ANGPTL4 had triglyceride levels that were lower than those among noncarriers; these mutations were also associated with protection from coronary artery disease.
  •  
23.
  • Wen, Gen, et al. (författare)
  • An ancestral variant of Secretogranin II confers regulation by PHOX2 transcription factors and association with hypertension
  • 2007
  • Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 16:14, s. 1752-1764
  • Tidskriftsartikel (refereegranskat)abstract
    • Granins regulate secretory vesicle formation in neuroendocrine cells and granin-derived peptides are co-released with neurotransmitters as modulatory signals at sympathetic sites. We report evidence for association between a regulatory polymorphism in Secretogranin II (SCG2) and hypertension in African-American subjects. The minor allele is ancestral in the human lineage and is associated with disease risk in two case-control studies and with elevated blood pressure in a separate familial study. Mechanistically, the ancestral allele acts as a transcriptional enhancer in cells that express endogenous Scg2, whereas the derived allele does not. ARIX (PHOX2A) and PHOX2B are identified as potential transactivating factors by oligonucleotide affinity chromatography and mass spectrometry and confirmed by chromatin immunoprecipitation. Each of these transcription factors preferentially binds the risk allele, both in vitro and in vivo. Population genetic considerations suggest positive selection of the protective allele within the human lineage. These results identify a common regulatory variation in SCG2 and implicate granin gene expression in the control of human blood pressure and susceptibility to hypertension.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 21-23 av 23
Typ av publikation
tidskriftsartikel (23)
Typ av innehåll
refereegranskat (23)
Författare/redaktör
van Duijn, Cornelia ... (16)
Munroe, Patricia B. (16)
Chasman, Daniel I. (15)
Loos, Ruth J F (15)
Hayward, Caroline (15)
Gudnason, Vilmundur (15)
visa fler...
Boerwinkle, Eric (15)
Rudan, Igor (14)
Ridker, Paul M. (14)
Harris, Tamara B (14)
Uitterlinden, André ... (14)
Wareham, Nicholas J. (13)
Boehnke, Michael (13)
Rotter, Jerome I. (13)
Samani, Nilesh J. (13)
Lind, Lars (12)
Laakso, Markku (12)
Langenberg, Claudia (12)
Gieger, Christian (12)
Metspalu, Andres (12)
Psaty, Bruce M (12)
Salomaa, Veikko (11)
Campbell, Harry (11)
Scott, Robert A (11)
Wilson, James F. (11)
Chakravarti, Aravind ... (11)
Perola, Markus (10)
Stancáková, Alena (10)
Kuusisto, Johanna (10)
Amin, Najaf (10)
Mohlke, Karen L (10)
Peters, Annette (10)
Caulfield, Mark J. (10)
Padmanabhan, Sandosh (10)
Hicks, Andrew A. (10)
Pramstaller, Peter P ... (10)
Liu, Yongmei (10)
Polasek, Ozren (10)
Franco, Oscar H. (10)
Raitakari, Olli T (9)
Deloukas, Panos (9)
Rose, Lynda M (9)
Mangino, Massimo (9)
Strauch, Konstantin (9)
Luan, Jian'an (9)
Palmer, Colin N. A. (9)
Zhao, Jing Hua (9)
Launer, Lenore J (9)
Hofman, Albert (9)
Cupples, L. Adrienne (9)
visa färre...
Lärosäte
Uppsala universitet (16)
Lunds universitet (14)
Karolinska Institutet (13)
Umeå universitet (10)
Göteborgs universitet (4)
Stockholms universitet (3)
visa fler...
Högskolan Dalarna (3)
Örebro universitet (1)
Handelshögskolan i Stockholm (1)
visa färre...
Språk
Engelska (23)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (20)
Naturvetenskap (4)

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