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Search: WFRF:(Stirrups K)

  • Result 31-33 of 33
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31.
  • Scott, Robert A., et al. (author)
  • Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways
  • 2012
  • In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:9, s. 991-1005
  • Journal article (peer-reviewed)abstract
    • Through genome-wide association meta-analyses of up to 133,010 individuals of European ancestry without diabetes, including individuals newly genotyped using the Metabochip, we have increased the number of confirmed loci influencing glycemic traits to 53, of which 33 also increase type 2 diabetes risk (q < 0.05). Loci influencing fasting insulin concentration showed association with lipid levels and fat distribution, suggesting impact on insulin resistance. Gene-based analyses identified further biologically plausible loci, suggesting that additional loci beyond those reaching genome-wide significance are likely to represent real associations. This conclusion is supported by an excess of directionally consistent and nominally significant signals between discovery and follow-up studies. Functional analysis of these newly discovered loci will further improve our understanding of glycemic control.
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32.
  • Stolk, Lisette, et al. (author)
  • Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways
  • 2012
  • In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:3, s. 260-268
  • Journal article (peer-reviewed)abstract
    • To newly identify loci for age at natural menopause, we carried out a meta-analysis of 22 genome-wide association studies (GWAS) in 38,968 women of European descent, with replication in up to 14,435 women. In addition to four known loci, we identified 13 loci newly associated with age at natural menopause (at P < 5 × 10(-8)). Candidate genes located at these newly associated loci include genes implicated in DNA repair (EXO1, HELQ, UIMC1, FAM175A, FANCI, TLK1, POLG and PRIM1) and immune function (IL11, NLRP11 and PRRC2A (also known as BAT2)). Gene-set enrichment pathway analyses using the full GWAS data set identified exoDNase, NF-κB signaling and mitochondrial dysfunction as biological processes related to timing of menopause.
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33.
  • Surendran, Praveen, et al. (author)
  • Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension
  • 2016
  • In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:10, s. 1151-1161
  • Journal article (peer-reviewed)abstract
    • High blood pressure is a major risk factor for cardiovascular disease and premature death. However, there is limited knowledge on specific causal genes and pathways. To better understand the genetics of blood pressure, we genotyped 242,296 rare, low-frequency and common genetic variants in up to 192,763 individuals and used -1/4155,063 samples for independent replication. We identified 30 new blood pressure- or hypertension-associated genetic regions in the general population, including 3 rare missense variants in RBM47, COL21A1 and RRAS with larger effects (>1.5 mm Hg/allele) than common variants. Multiple rare nonsense and missense variant associations were found in A2ML1, and a low-frequency nonsense variant in ENPEP was identified. Our data extend the spectrum of allelic variation underlying blood pressure traits and hypertension, provide new insights into the pathophysiology of hypertension and indicate new targets for clinical intervention.
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  • Result 31-33 of 33
Type of publication
journal article (32)
research review (1)
Type of content
peer-reviewed (33)
Author/Editor
Lind, Lars (23)
Deloukas, Panos (20)
Groop, Leif (18)
Salomaa, Veikko (17)
McCarthy, Mark I (17)
Langenberg, Claudia (17)
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Ingelsson, Erik (17)
Loos, Ruth J F (17)
Esko, Tõnu (17)
Lindgren, Cecilia M. (17)
Wareham, Nicholas J. (16)
Laakso, Markku (16)
Boehnke, Michael (16)
Mohlke, Karen L (16)
Kuusisto, Johanna (15)
Tuomilehto, Jaakko (15)
Uitterlinden, André ... (15)
Rauramaa, Rainer (15)
Borecki, Ingrid B. (15)
Rudan, Igor (14)
Franks, Paul W. (14)
Chasman, Daniel I. (14)
Luan, Jian'an (14)
Metspalu, Andres (14)
Hayward, Caroline (14)
Jackson, Anne U. (14)
Collins, Francis S. (14)
Stirrups, Kathleen (14)
Franks, Paul (13)
Perola, Markus (13)
Hallmans, Göran (13)
Ridker, Paul M. (13)
Barroso, Ines (13)
Gustafsson, Stefan (13)
Palmer, Colin N. A. (13)
Hofman, Albert (13)
Kanoni, Stavroula (13)
Lakka, Timo A (13)
Mihailov, Evelin (13)
Deloukas, P. (12)
Renström, Frida (12)
van Duijn, Cornelia ... (12)
Scott, Robert A (12)
Saleheen, Danish (12)
Gieger, Christian (12)
Mahajan, Anubha (12)
Morris, Andrew D (12)
Gudnason, Vilmundur (12)
Cupples, L. Adrienne (12)
Boerwinkle, Eric (12)
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University
Lund University (29)
Uppsala University (27)
Umeå University (25)
Karolinska Institutet (25)
University of Gothenburg (8)
Högskolan Dalarna (3)
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Stockholm University (1)
Örebro University (1)
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Language
English (33)
Research subject (UKÄ/SCB)
Medical and Health Sciences (31)
Natural sciences (5)

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