SwePub
Sök i SwePub databas

  Extended search

Träfflista för sökning "WFRF:(Buckley Alan N.) "

Search: WFRF:(Buckley Alan N.)

  • Result 1-3 of 3
Sort/group result
   
EnumerationReferenceCoverFind
1.
  • Pattaro, Cristian, et al. (author)
  • Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
  • 2016
  • In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
  • Journal article (peer-reviewed)abstract
    • Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.
  •  
2.
  •  
3.
  • Estrada, Karol, et al. (author)
  • Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
  • 2012
  • In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 44:5, s. 491-501
  • Journal article (peer-reviewed)abstract
    • Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for replication in 50,933 independent subjects and for association with risk of low-trauma fracture in 31,016 individuals with a history of fracture (cases) and 102,444 controls. We identified 56 loci (32 new) associated with BMD at genome-wide significance (P < 5 × 10(-8)). Several of these factors cluster within the RANK-RANKL-OPG, mesenchymal stem cell differentiation, endochondral ossification and Wnt signaling pathways. However, we also discovered loci that were localized to genes not known to have a role in bone biology. Fourteen BMD-associated loci were also associated with fracture risk (P < 5 × 10(-4), Bonferroni corrected), of which six reached P < 5 × 10(-8), including at 18p11.21 (FAM210A), 7q21.3 (SLC25A13), 11q13.2 (LRP5), 4q22.1 (MEPE), 2p16.2 (SPTBN1) and 10q21.1 (DKK1). These findings shed light on the genetic architecture and pathophysiological mechanisms underlying BMD variation and fracture susceptibility.
  •  
Skapa referenser, mejla, bekava och länka
  • Result 1-3 of 3
Type of publication
journal article (2)
editorial collection (1)
Type of content
peer-reviewed (2)
other academic/artistic (1)
Author/Editor
Viikari, Jorma (2)
Ridker, Paul M. (2)
Chasman, Daniel I. (2)
van Duijn, Cornelia ... (2)
Rose, Lynda M (2)
Kähönen, Mika (2)
show more...
Lehtimäki, Terho (2)
Nilsson, P. (1)
Khaw, Kay-Tee (1)
Karlsson, Magnus (1)
Vandenput, Liesbeth, ... (1)
Lorentzon, Mattias, ... (1)
März, Winfried (1)
Lind, Lars (1)
Forssberg, Eric (1)
Portas, Laura (1)
Imboden, Medea (1)
Probst-Hensch, Nicol ... (1)
Cooper, Cyrus (1)
LaCroix, Andrea Z. (1)
Sambrook, Philip N. (1)
Adam, Martin (1)
Brenner, Hermann (1)
Soranzo, Nicole (1)
Rosengren, Annika, 1 ... (1)
Campbell, Harry (1)
Rudan, Igor (1)
Ohlsson, Claes, 1965 (1)
Kwan, Tony (1)
Pastinen, Tomi (1)
Freedman, Barry I. (1)
Chalmers, John (1)
Guessous, Idris (1)
Enroth, Stefan (1)
Hallmans, Göran (1)
Khusnutdinova, Elza (1)
Center, Jacqueline R (1)
Eisman, John A (1)
Nguyen, Tuan V (1)
Johansson, Åsa (1)
Melander, O. (1)
Eriksson, Joel (1)
Hu, Frank B. (1)
Demirkan, Ayse (1)
Amin, Najaf (1)
Chu, Audrey Y (1)
Thorleifsson, Gudmar (1)
Thorsteinsdottir, Un ... (1)
Stefansson, Kari (1)
Verweij, Niek (1)
show less...
University
University of Gothenburg (2)
Uppsala University (2)
Lund University (2)
Umeå University (1)
Luleå University of Technology (1)
Language
English (3)
Research subject (UKÄ/SCB)
Medical and Health Sciences (2)
Natural sciences (1)
Engineering and Technology (1)

Year

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 Close

Copy and save the link in order to return to this view