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Search: WFRF:(Tönjes Anke)

  • Result 21-22 of 22
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21.
  • Tönjes, Anke, et al. (author)
  • Genome-wide meta-analysis identifies novel determinants of circulating serum progranulin
  • 2018
  • In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 27:3, s. 546-558
  • Journal article (peer-reviewed)abstract
    • Progranulin is a secreted protein with important functions in processes including immune and inflammatory response, metabolism and embryonic development. The present study aimed at identification of genetic factors determining progranulin concentrations. We conducted a genome-wide association meta-analysis for serum progranulin in three independent cohorts from Europe: Sorbs (N=848) and KORA (N=1628) from Germany and PPP-Botnia (N=335) from Finland (total N=2811). Single nucleotide polymorphisms (SNPs) associated with progranulin levels were replicated in two additional German cohorts: LIFE-Heart Study (Leipzig; N=967) and Metabolic Syndrome Berlin Potsdam (Berlin cohort; N=833). We measured mRNA expression of genes in peripheral blood mononuclear cells (PBMC) by micro-arrays and performed mRNA expression quantitative trait and expression-progranulin association studies to functionally substantiate identified loci. Finally, we conducted siRNA silencing experiments in vitro to validate potential candidate genes within the associated loci. Heritability of circulating progranulin levels was estimated at 31.8% and 26.1% in the Sorbs and LIFE-Heart cohort, respectively. SNPs at three loci reached study-wide significance (rs660240 in CELSR2-PSRC1-MYBPHL-SORT1, rs4747197 in CDH23- PSAP and rs5848 in GRN) explaining 19.4%/15.0% of the variance and 61%/57% of total heritability in the Sorbs/LIFE-Heart Study. The strongest evidence for association was at rs660240 (P=5.75x10-50), which was also associated with mRNA expression of PSRC1 in PBMC (P=1.51x10-21). Psrc1 knockdown in murine preadipocytes led to a consecutive 30% reduction in progranulin secretion. In conclusion, the present meta-GWAS combined with mRNA expression identified three loci associated with progranulin and supports the role of PSRC1 in the regulation of progranulin secretion.
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22.
  • Williamson, Alice, et al. (author)
  • Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake
  • 2023
  • In: Nature Genetics. - : Springer Nature. - 1061-4036 .- 1546-1718. ; 55:6, s. 973-983
  • Journal article (peer-reviewed)abstract
    • Distinct tissue-specific mechanisms mediate insulin action in fasting and postprandial states. Previous genetic studies have largely focused on insulin resistance in the fasting state, where hepatic insulin action dominates. Here we studied genetic variants influencing insulin levels measured 2 h after a glucose challenge in >55,000 participants from three ancestry groups. We identified ten new loci (P < 5 × 10-8) not previously associated with postchallenge insulin resistance, eight of which were shown to share their genetic architecture with type 2 diabetes in colocalization analyses. We investigated candidate genes at a subset of associated loci in cultured cells and identified nine candidate genes newly implicated in the expression or trafficking of GLUT4, the key glucose transporter in postprandial glucose uptake in muscle and fat. By focusing on postprandial insulin resistance, we highlighted the mechanisms of action at type 2 diabetes loci that are not adequately captured by studies of fasting glycemic traits.
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  • Result 21-22 of 22
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journal article (22)
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peer-reviewed (22)
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Kovacs, Peter (20)
Wareham, Nicholas J. (16)
Laakso, Markku (14)
Boehnke, Michael (14)
Mohlke, Karen L (14)
Kuusisto, Johanna (13)
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McCarthy, Mark I (13)
Loos, Ruth J F (13)
Groop, Leif (12)
Langenberg, Claudia (12)
Ingelsson, Erik (11)
Tuomilehto, Jaakko (11)
Gieger, Christian (11)
Walker, Mark (11)
Froguel, Philippe (11)
Luan, Jian'an (11)
Wilson, James F. (11)
Hansen, Torben (10)
van Duijn, Cornelia ... (10)
Lehtimäki, Terho (10)
Barroso, Ines (10)
Salomaa, Veikko (9)
Perola, Markus (9)
Lind, Lars (9)
Campbell, Harry (9)
Deloukas, Panos (9)
North, Kari E. (9)
Pedersen, Oluf (9)
Shuldiner, Alan R. (9)
Mangino, Massimo (9)
Eriksson, Johan G. (9)
Hayward, Caroline (9)
Hirschhorn, Joel N. (9)
Lyssenko, Valeriya (8)
Rudan, Igor (8)
Isomaa, Bo (8)
Grarup, Niels (8)
Thorleifsson, Gudmar (8)
Thorsteinsdottir, Un ... (8)
Stefansson, Kari (8)
Boomsma, Dorret I. (8)
Jarvelin, Marjo-Riit ... (8)
Hattersley, Andrew T (8)
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Zhao, Jing Hua (8)
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Uitterlinden, André ... (8)
Psaty, Bruce M (8)
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Lund University (16)
Uppsala University (15)
Karolinska Institutet (11)
University of Gothenburg (8)
Umeå University (5)
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English (22)
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Medical and Health Sciences (18)
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