SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Riedel Heller Steffi G.) "

Sökning: WFRF:(Riedel Heller Steffi G.)

  • Resultat 1-2 av 2
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Fratiglioni, Laura, et al. (författare)
  • Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
  • 2017
  • Ingår i: Nature Genetics. - 1061-4036 .- 1546-1718. ; 49:9, s. 1373-
  • Tidskriftsartikel (refereegranskat)abstract
    • We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 x 10(-4)) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, we used an additional 14,997 samples to test the most significant stage 2 associations (P < 5 x 10(-8)) using imputed genotypes. We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p. Pro522Arg, P = 5.38 x 10(-10), odds ratio (OR) = 0.68, minor allele frequency (MAF) cases = 0.0059, MAFcontrols = 0.0093), a risk variant in ABI3 (rs616338: p. Ser209Phe, P = 4.56 x 10-10, OR = 1.43, MAFcases = 0.011, MAFcontrols = 0.008), and a new genome-wide significant variant in TREM2 (rs143332484: p. Arg62His, P = 1.55 x 10(-14), OR = 1.67, MAFcases = 0.0143, MAFcontrols = 0.0089), a known susceptibility gene for Alzheimer's disease. These protein-altering changes are in genes highly expressed in microglia and highlight an immune-related protein-protein interaction network enriched for previously identified risk genes in Alzheimer's disease. These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to the development of Alzheimer's disease.
  •  
2.
  • Davies, Gail, et al. (författare)
  • Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
  • 2018
  • Ingår i: Nature Communications. - Nature Publishing Group. - 2041-1723. ; 9:1
  • Tidskriftsartikel (refereegranskat)abstract
    • General cognitive function is a prominent and relatively stable human trait that is associated with many important life outcomes. We combine cognitive and genetic data from the CHARGE and COGENT consortia, and UK Biobank (total N = 300,486; age 16-102) and find 148 genome-wide significant independent loci (P < 5 × 10-8) associated with general cognitive function. Within the novel genetic loci are variants associated with neurodegenerative and neurodevelopmental disorders, physical and psychiatric illnesses, and brain structure. Gene-based analyses find 709 genes associated with general cognitive function. Expression levels across the cortex are associated with general cognitive function. Using polygenic scores, up to 4.3% of variance in general cognitive function is predicted in independent samples. We detect significant genetic overlap between general cognitive function, reaction time, and many health variables including eyesight, hypertension, and longevity. In conclusion we identify novel genetic loci and pathways contributing to the heritability of general cognitive function.
Skapa referenser, mejla, bekava och länka
  • Resultat 1-2 av 2
Åtkomst
fritt online (1)
Typ av publikation
tidskriftsartikel (2)
Typ av innehåll
refereegranskat (2)
Författare/redaktör
Van der Lee, Sven J. ... (2)
Bis, Joshua C., (2)
Satizabal, Claudia L ... (2)
Smith, Albert V., (2)
Pasquier, Florence (1)
Lawlor, Brian (1)
visa fler...
Lannfelt, Lars, (1)
Raitakari, Olli T (1)
Vandenberghe, Rik, (1)
Adams, Hieab H. H., (1)
Chouraki, Vincent, (1)
Trompet, Stella, (1)
Seshadri, Sudha, (1)
Amin, Najaf, (1)
Armstrong, Nicola J. ... (1)
Giddaluru, Sudheer, (1)
Gottesman, Rebecca F ... (1)
Griswold, Michael E. ... (1)
Hofer, Edith, (1)
Liewald, David C. M. ... (1)
Luciano, Michelle, (1)
Mather, Karen A., (1)
Yang, Jingyun, (1)
Ames, David, (1)
Amouyel, Philippe, (1)
Andreassen, Ole A., (1)
Assareh, Amelia A., (1)
Barral, Sandra, (1)
Becker, James T., (1)
Bennett, David A., (1)
Brodaty, Henry, (1)
Corvin, Aiden, (1)
Dale, Anders M., (1)
De Jager, Philip L., (1)
Djurovic, Srdjan, (1)
Donohoe, Gary, (1)
Espeseth, Thomas, (1)
Evans, Denis A., (1)
Ford, Ian, (1)
Foroud, Tatiana M., (1)
Glahn, David C., (1)
Green, Robert C., (1)
Gudnason, Vilmundur, (1)
Hansell, Narelle K., (1)
Hardy, John, (1)
Le Hellard, Stephani ... (1)
Ikram, M. Kamran, (1)
Jukema, J. Wouter, (1)
Kloszewska, Iwona, (1)
Knopman, David S., (1)
visa färre...
Lärosäte
Stockholms universitet (2)
Karolinska Institutet (2)
Umeå universitet (1)
Uppsala universitet (1)
Högskolan i Jönköping (1)
Språk
Engelska (2)
Forskningsämne (UKÄ/SCB)
Naturvetenskap (2)
Medicin och hälsovetenskap (1)

År

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy