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Search: WFRF:(Zeggini E)

  • Result 11-20 of 95
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  • Marouli, Eirini, et al. (author)
  • Rare and low-frequency coding variants alter human adult height
  • 2017
  • In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 542:7640, s. 186-190
  • Journal article (peer-reviewed)abstract
    • Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.
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  • Craddock, Nick, et al. (author)
  • Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
  • 2010
  • In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
  • Journal article (peer-reviewed)abstract
    • Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.
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  • Result 11-20 of 95
Type of publication
journal article (90)
conference paper (5)
Type of content
peer-reviewed (86)
other academic/artistic (9)
Author/Editor
Zeggini, E (48)
Zeggini, Eleftheria (47)
Lind, Lars (33)
McCarthy, Mark I (30)
Langenberg, Claudia (30)
Wareham, Nicholas J. (29)
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Dedoussis, G. (27)
Boehnke, Michael (26)
Mohlke, Karen L (26)
Mahajan, Anubha (25)
Groop, Leif (23)
Laakso, Markku (23)
Grarup, Niels (23)
Hansen, Torben (23)
Tuomilehto, Jaakko (23)
Deloukas, Panos (22)
Pedersen, Oluf (22)
Loos, Ruth J F (22)
Langenberg, C. (21)
Salomaa, Veikko (21)
Scott, Robert A (21)
Palmer, Colin N. A. (21)
Hayward, C. (21)
Hayward, Caroline (21)
Luan, Jian'an (20)
Uitterlinden, André ... (20)
Frayling, Timothy M (20)
Franks, Paul W. (19)
Kuusisto, Johanna (19)
Linneberg, Allan (19)
van Duijn, Cornelia ... (19)
Jarvelin, Marjo-Riit ... (19)
Hattersley, Andrew T (19)
Metspalu, A (19)
Morris, AP (19)
Ntalla, I (19)
Polasek, Ozren (19)
Thorleifsson, Gudmar (18)
Stefansson, Kari (18)
Gieger, Christian (18)
Wilson, James F. (18)
Elliott, Paul (18)
Raitakari, Olli T (17)
Thorsteinsdottir, Un ... (17)
Wilson, JF (17)
Gieger, C (17)
Ripatti, S (17)
Deary, Ian J (17)
Morris, Andrew D (17)
Esko, Tõnu (17)
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University
Karolinska Institutet (63)
Uppsala University (40)
Lund University (40)
University of Gothenburg (23)
Umeå University (23)
Stockholm University (6)
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Mid Sweden University (4)
Örebro University (3)
Royal Institute of Technology (1)
Stockholm School of Economics (1)
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Language
English (95)
Research subject (UKÄ/SCB)
Medical and Health Sciences (63)
Natural sciences (15)
Social Sciences (1)

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