SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Lewin Ian) srt2:(2015-2019)"

Sökning: WFRF:(Lewin Ian) > (2015-2019)

  • Resultat 1-2 av 2
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Gaulton, Kyle J, et al. (författare)
  • Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.
  • 2015
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 47:12, s. 1415-1415
  • Tidskriftsartikel (refereegranskat)abstract
    • We performed fine mapping of 39 established type 2 diabetes (T2D) loci in 27,206 cases and 57,574 controls of European ancestry. We identified 49 distinct association signals at these loci, including five mapping in or near KCNQ1. 'Credible sets' of the variants most likely to drive each distinct signal mapped predominantly to noncoding sequence, implying that association with T2D is mediated through gene regulation. Credible set variants were enriched for overlap with FOXA2 chromatin immunoprecipitation binding sites in human islet and liver cells, including at MTNR1B, where fine mapping implicated rs10830963 as driving T2D association. We confirmed that the T2D risk allele for this SNP increases FOXA2-bound enhancer activity in islet- and liver-derived cells. We observed allele-specific differences in NEUROD1 binding in islet-derived cells, consistent with evidence that the T2D risk allele increases islet MTNR1B expression. Our study demonstrates how integration of genetic and genomic information can define molecular mechanisms through which variants underlying association signals exert their effects on disease.
  •  
2.
  • Smith, Jennifer A, et al. (författare)
  • Genome-wide association study identifies 74 loci associated with educational attainment
  • 2016
  • Ingår i: Nature (London). - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 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. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample 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.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-2 av 2
Typ av publikation
tidskriftsartikel (2)
Typ av innehåll
refereegranskat (2)
Författare/redaktör
Salomaa, Veikko (2)
Franke, Barbara (1)
Boeing, Heiner (1)
Franks, Paul (1)
Nilsson, Peter (1)
Lyssenko, Valeriya (1)
visa fler...
Tuomi, Tiinamaija (1)
Groop, Leif (1)
Jacobsson, Bo, 1960 (1)
Fadista, Joao (1)
Perola, Markus (1)
Lind, Lars (1)
Melander, Olle (1)
Johannesson, Magnus (1)
Davey Smith, George (1)
Campbell, Harry (1)
Rudan, Igor (1)
Staessen, Jan A (1)
Deloukas, Panos (1)
Lindholm, Eero (1)
Lindgren, Karl-Oskar (1)
Palli, Domenico (1)
Navarro, Carmen (1)
Wareham, Nicholas J. (1)
Kraft, Peter (1)
Pendleton, Neil (1)
Lichtenstein, Paul (1)
Almgren, Peter (1)
Stancáková, Alena (1)
Jonsson, Anna (1)
Kuusisto, Johanna (1)
Laakso, Markku (1)
Storm, Petter (1)
Dorkhan, Mozhgan (1)
McCarthy, Mark I (1)
Koellinger, Philipp ... (1)
Oskarsson, Sven (1)
Kravic, Jasmina (1)
Ahluwalia, Tarunveer ... (1)
Waage, Johannes (1)
Linneberg, Allan (1)
Jørgensen, Marit E. (1)
Grarup, Niels (1)
Pedersen, Oluf (1)
Hansen, Torben (1)
Sennblad, Bengt (1)
Hu, Frank B. (1)
Amin, Najaf (1)
van Duijn, Cornelia ... (1)
Jørgensen, Torben (1)
visa färre...
Lärosäte
Uppsala universitet (2)
Karolinska Institutet (2)
Göteborgs universitet (1)
Umeå universitet (1)
Stockholms universitet (1)
Lunds universitet (1)
visa fler...
Handelshögskolan i Stockholm (1)
visa färre...
Språk
Engelska (2)
Forskningsämne (UKÄ/SCB)
Naturvetenskap (2)
Medicin och hälsovetenskap (2)

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