SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Petrovic Katja) "

Sökning: WFRF:(Petrovic Katja)

  • Resultat 1-7 av 7
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Keller, Annika, et al. (författare)
  • Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
  • 2013
  • Ingår i: Nature Genetics. - 1061-4036 .- 1546-1718. ; 45:9, s. 1077-
  • Tidskriftsartikel (refereegranskat)abstract
    • Calcifications in the basal ganglia are a common incidental finding and are sometimes inherited as an autosomal dominant trait ( idiopathic basal ganglia calcification (IBGC)). Recently, mutations in the PDGFRB gene coding for the platelet-derived growth factor receptor beta (PDGF-R beta) were linked to IBGC. Here we identify six families of different ancestry with nonsense and missense mutations in the gene encoding PDGF-B, the main ligand for PDGF-R beta. We also show that mice carrying hypomorphic Pdgfb alleles develop brain calcifications that show age-related expansion. The occurrence of these calcium depositions depends on the loss of endothelial PDGF-B and correlates with the degree of pericyte and blood-brain barrier deficiency. Thus, our data present a clear link between Pdgfb mutations and brain calcifications in mice, as well as between PDGFB mutations and IBGC in humans.
  •  
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.
3.
  • Maddock, Jane, et al. (författare)
  • Vitamin D and cognitive function A Mendelian randomisation study.
  • 2017
  • Ingår i: Scientific Reports. - 2045-2322 .- 2045-2322. ; 7
  • Tidskriftsartikel (refereegranskat)abstract
    • The causal nature of the association between hypovitaminosis D and poor cognitive function in mid- to later-life is uncertain. Using a Mendelian randomisation(MR) approach, we examined the causal relationship between 25(OH)D and cognitive function. Data came from 172,349 participants from 17 cohorts. DHCR7(rs12785878), CYP2R1 rs12794714) and their combined synthesis score were chosen to proxy 25(OH)D. Cognitive tests were standardised into global and memory scores. Analyses were stratified by 25(OH)D tertiles, sex and age. Random effects meta-analyses assessed associations between 25(OH)D and cognitive function. Associations of serum 25(OH)D with global and memory-related cognitive function were non-linear (lower cognitive scores for both low and high 25(OH)D, p curvature ≤ 0.006), with much of the curvature attributed to a single study. DHCR7, CYP2R1, and the synthesis score were associated with small reductions in 25(OH)D per vitamin D-decreasing allele. However, coefficients for associations with global or memory-related cognitive function were non-significant and in opposing directions for DHCR7 and CYP2R1, with no overall association observed for the synthesis score. Coefficients for the synthesis score and global and memory cognition were similar when stratified by 25(OH)D tertiles, sex and age. We found no evidence for serum 25(OH)D concentration as a causal factor for cognitive performance in mid- to later life.
4.
  •  
5.
  • Okbay, Aysu, et al. (författare)
  • Genome-wide association study identifies 74 loci associated with educational attainment
  • 2016
  • Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 533:7604, s. 539-542
  • Tidskriftsartikel (refereegranskat)abstract
    • Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals(1). Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample(1,2) of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.
  •  
6.
  • Rietveld, Cornelius A., et al. (författare)
  • GWAS of 126,559 Individuals Identifies Genetic Variants Associated with Educational Attainment
  • 2013
  • Ingår i: Science. - 0036-8075 .- 1095-9203. ; 340:6139, s. 1467-1471
  • Tidskriftsartikel (refereegranskat)abstract
    • A genome-wide association study (GWAS) of educational attainment was conducted in a discovery sample of 101,069 individuals and a replication sample of 25,490. Three independent single-nucleotide polymorphisms (SNPs) are genome-wide significant (rs9320913, rs11584700, rs4851266), and all three replicate. Estimated effects sizes are small (coefficient of determination R-2 approximate to 0.02%), approximately 1 month of schooling per allele. A linear polygenic score from all measured SNPs accounts for approximate to 2% of the variance in both educational attainment and cognitive function. Genes in the region of the loci have previously been associated with health, cognitive, and central nervous system phenotypes, and bioinformatics analyses suggest the involvement of the anterior caudate nucleus. These findings provide promising candidate SNPs for follow-up work, and our effect size estimates can anchor power analyses in social-science genetics.
  •  
7.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-7 av 7
Åtkomst
fritt online (2)
Typ av publikation
tidskriftsartikel (7)
Typ av innehåll
refereegranskat (7)
Författare/redaktör
Schmidt, Reinhold, (5)
Schmidt, Helena, (4)
Eriksson, Johan G. (4)
Raitakari, Olli T (3)
Amin, Najaf, (3)
Smith, Albert V., (3)
visa fler...
Bennett, David A., (3)
De Jager, Philip L., (3)
Montgomery, Grant W. ... (3)
Van Duijn, Cornelia ... (3)
Deary, Ian J., (3)
Martin, Nicholas G., (3)
Pedersen, Nancy L (3)
Zhao, Wei, (3)
Kaprio, Jaakko (3)
Hayward, Caroline (3)
Polasek, Ozren (3)
Vitart, Veronique (3)
Campbell, Harry (3)
Wallin, Anders, 1950 ... (2)
Van der Lee, Sven J. ... (2)
Hofer, Edith, (2)
Liewald, David C. M. ... (2)
Teumer, Alexander, (2)
Yang, Jingyun, (2)
Boomsma, Dorret I., (2)
Gudnason, Vilmundur, (2)
Hoffmann, Wolfgang, (2)
Hofman, Albert, (2)
Hottenga, Jouke-Jan, (2)
Penninx, Brenda W. J ... (2)
Tiemeier, Henning, (2)
Uitterlinden, Andre ... (2)
Launer, Lenore J., (2)
Medland, Sarah E., (2)
Deloukas, Panos (2)
Pendleton, Neil, (2)
Magnusson, Patrik K ... (2)
Salomaa, Veikko (2)
Lichtenstein, Paul, (2)
Hägg, Sara, (2)
Willemsen, Gonneke (2)
Gieger, Christian (2)
Nyholt, Dale R. (2)
Karlsson, Robert, (2)
Alizadeh, Behrooz Z (2)
Yang, Jian (2)
Esko, Tonu (2)
Kutalik, Zoltan (2)
Perola, Markus (2)
visa färre...
Lärosäte
Karolinska Institutet (6)
Göteborgs universitet (4)
Uppsala universitet (4)
Umeå universitet (1)
Stockholms universitet (1)
Högskolan i Jönköping (1)
Språk
Engelska (7)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (7)
Naturvetenskap (2)
Samhällsvetenskap (1)

År

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy