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Träfflista för sökning "WFRF:(Barbieri A) "

Search: WFRF:(Barbieri A)

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  • 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 11-20 of 168
Type of publication
journal article (153)
conference paper (8)
research review (3)
reports (1)
Type of content
peer-reviewed (159)
other academic/artistic (6)
Author/Editor
Barbieri, C. (106)
Fornasier, S. (83)
Naletto, G. (83)
Da Deppo, V. (82)
Sierks, H. (80)
Groussin, O. (80)
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Thomas, N (79)
Rodrigo, R. (79)
Koschny, D. (79)
Cremonese, G. (79)
Knollenberg, J. (79)
Keller, H. U. (78)
Lazzarin, M. (78)
Marzari, F. (78)
Bertaux, J. -L (77)
Bertini, I. (77)
De Cecco, M. (77)
Fulle, M. (77)
Jorda, L. (77)
Vincent, J. -B (76)
Tubiana, C. (76)
Rickman, Hans (76)
Debei, S. (76)
Barucci, M. A. (75)
Hviid, S. F. (73)
Oklay, N. (73)
Gutierrez, P. J. (71)
Kuehrt, E. (71)
Ip, W. -H (70)
A'Hearn, M. F. (68)
Guettler, C. (67)
Kramm, J. -R (66)
Lopez Moreno, J. J. (62)
Lara, L. M. (61)
Mottola, S. (61)
Pajola, M. (60)
Lamy, P. L. (52)
Agarwal, J. (51)
Davidsson, Björn (44)
Kueppers, M. (42)
Kovacs, G (42)
Scholten, F. (40)
Preusker, F. (39)
Shi, X. (37)
Hofmann, M. (36)
Bodewits, D. (36)
Kuppers, M. (36)
Deller, J. (35)
El-Maarry, M. R. (35)
Massironi, M. (33)
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University
Uppsala University (96)
Karolinska Institutet (42)
Lund University (25)
Stockholm University (9)
University of Gothenburg (8)
Royal Institute of Technology (6)
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Umeå University (3)
Örebro University (2)
Linköping University (2)
Chalmers University of Technology (2)
Luleå University of Technology (1)
Stockholm School of Economics (1)
Mid Sweden University (1)
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Language
English (168)
Research subject (UKÄ/SCB)
Natural sciences (109)
Medical and Health Sciences (26)
Engineering and Technology (2)
Agricultural Sciences (1)
Social Sciences (1)

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