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Search: WFRF:(Penninx Brenda W.) > Pramstaller Peter P. > Högskolan Dalarna

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1.
  • Shungin, Dmitry, et al. (author)
  • New genetic loci link adipose and insulin biology to body fat distribution.
  • 2015
  • In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 187-378
  • Journal article (peer-reviewed)abstract
    • Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.
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2.
  • Wuttke, Matthias, et al. (author)
  • A catalog of genetic loci associated with kidney function from analyses of a million individuals
  • 2019
  • In: Nature Genetics. - : NATURE PUBLISHING GROUP. - 1061-4036 .- 1546-1718. ; 51:6, s. 957-972
  • Journal article (peer-reviewed)abstract
    • Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through transancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these,147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.
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journal article (2)
Type of content
peer-reviewed (2)
Author/Editor
Salomaa, Veikko (2)
Perola, Markus (2)
Lind, Lars (2)
Raitakari, Olli T (2)
Campbell, Harry (2)
Rudan, Igor (2)
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Kuusisto, Johanna (2)
Laakso, Markku (2)
Ridker, Paul M. (2)
Chasman, Daniel I. (2)
Demirkan, Ayse (2)
Amin, Najaf (2)
van Duijn, Cornelia ... (2)
Magnusson, Patrik K ... (2)
Boehnke, Michael (2)
Mohlke, Karen L (2)
Thorleifsson, Gudmar (2)
Stefansson, Kari (2)
Verweij, Niek (2)
Gieger, Christian (2)
Strauch, Konstantin (2)
Mahajan, Anubha (2)
Froguel, Philippe (2)
Metspalu, Andres (2)
Hicks, Andrew A. (2)
Wilson, James F. (2)
Kovacs, Peter (2)
Montgomery, Grant W. (2)
Rivadeneira, Fernand ... (2)
Koenig, Wolfgang (2)
Harris, Tamara B (2)
Loos, Ruth J F (2)
Uitterlinden, André ... (2)
Hayward, Caroline (2)
Gudnason, Vilmundur (2)
Franco, Oscar H. (2)
Kleber, Marcus E. (2)
Hartman, Catharina A ... (2)
van der Harst, Pim (2)
Heid, Iris M (2)
Giedraitis, Vilmanta ... (2)
Vollenweider, Peter (2)
Feitosa, Mary F. (2)
Nolte, Ilja M. (2)
Teumer, Alexander (2)
Kraja, Aldi T. (2)
Stumvoll, Michael (2)
Oldehinkel, Albertin ... (2)
Snieder, Harold (2)
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University
Uppsala University (2)
Lund University (2)
Karolinska Institutet (2)
Högskolan Dalarna  (2)Undo refine
University of Gothenburg (1)
Umeå University (1)
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English (2)
Research subject (UKÄ/SCB)
Medical and Health Sciences (2)

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