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Search: WFRF:(Deloukas P)

  • Result 141-141 of 141
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141.
  • Wessel, Jennifer, et al. (author)
  • Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility
  • 2015
  • In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 6
  • Journal article (peer-reviewed)abstract
    • Fasting glucose and insulin are intermediate traits for type 2 diabetes. Here we explore the role of coding variation on these traits by analysis of variants on the HumanExome BeadChip in 60,564 non-diabetic individuals and in 16,491 T2D cases and 81,877 controls. We identify a novel association of a low-frequency nonsynonymous SNV in GLP1R (A316T; rs10305492; MAF = 1.4%) with lower FG (beta = -0.09 +/- 0.01 mmol l(-1), P = 3.4 x 10(-12)), T2D risk (OR[95% CI] = 0.86[0.76-0.96], P = 0.010), early insulin secretion (beta = -0.07 +/- 0.035 pmol(insulin) mmol(glucose)(-1), P = 0.048), but higher 2-h glucose (beta = 0.16 +/- 0.05 mmol l(-1), P = 4.3 x 10(-4)). We identify a gene-based association with FG at G6PC2 (p(SKAT) = 6.8 x 10(-6)) driven by four rare protein-coding SNVs (H177Y, Y207S, R283X and S324P). We identify rs651007 (MAF = 20%) in the first intron of ABO at the putative promoter of an antisense lncRNA, associating with higher FG (beta = 0.02 +/- 0.004 mmol l(-1), P = 1.3 x 10(-8)). Our approach identifies novel coding variant associations and extends the allelic spectrum of variation underlying diabetes-related quantitative traits and T2D susceptibility.
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  • Result 141-141 of 141
Type of publication
journal article (138)
conference paper (2)
Type of content
peer-reviewed (132)
other academic/artistic (8)
Author/Editor
Deloukas, Panos (69)
Deloukas, P. (66)
Salomaa, Veikko (45)
Wareham, Nicholas J. (45)
McCarthy, Mark I (43)
Loos, Ruth J F (43)
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Lind, Lars (40)
Samani, Nilesh J. (38)
Groop, Leif (37)
Boehnke, Michael (35)
Gieger, Christian (35)
Esko, Tõnu (35)
Stefansson, Kari (34)
Metspalu, Andres (34)
Laakso, Markku (33)
Langenberg, Claudia (33)
Mohlke, Karen L (33)
Barroso, Ines (33)
Hayward, Caroline (33)
Perola, Markus (32)
Thorsteinsdottir, Un ... (32)
Luan, Jian'an (32)
Palmer, Colin N. A. (32)
Melander, Olle (31)
Boerwinkle, Eric (31)
Franks, Paul W. (30)
Ingelsson, Erik (30)
Tuomilehto, Jaakko (30)
Thorleifsson, Gudmar (30)
Rudan, Igor (29)
Kuusisto, Johanna (29)
Uitterlinden, André ... (29)
Kanoni, S (28)
Kanoni, Stavroula (28)
Mangino, Massimo (27)
Hofman, Albert (27)
Gudnason, Vilmundur (27)
Jackson, Anne U. (27)
van Duijn, Cornelia ... (26)
Zhao, Jing Hua (26)
Elliott, Paul (26)
Willer, Cristen J (26)
Collins, Francis S. (26)
Chasman, Daniel I. (25)
Scott, Robert A (25)
Metspalu, A (25)
Polasek, Ozren (25)
Frayling, Timothy M (25)
Grallert, Harald (25)
Mihailov, Evelin (25)
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University
Karolinska Institutet (92)
Uppsala University (90)
Lund University (73)
Umeå University (48)
University of Gothenburg (30)
Stockholm University (5)
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Stockholm School of Economics (5)
Örebro University (3)
Högskolan Dalarna (3)
Linköping University (1)
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Language
English (141)
Research subject (UKÄ/SCB)
Medical and Health Sciences (104)
Natural sciences (19)

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