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  • Benzinou, Michael (author)

Common nonsynonymous variants in PCSK1 confer risk of obesity.

  • Article/chapterEnglish2008

Publisher, publication year, extent ...

  • 2008-07-06
  • Springer Science and Business Media LLC,2008

Numbers

  • LIBRIS-ID:oai:gup.ub.gu.se/87822
  • https://gup.ub.gu.se/publication/87822URI
  • https://doi.org/10.1038/ng.177DOI

Supplementary language notes

  • Language:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Mutations in PCSK1 cause monogenic obesity. To assess the contribution of PCSK1 to polygenic obesity risk, we genotyped tag SNPs in a total of 13,659 individuals of European ancestry from eight independent case-control or family-based cohorts. The nonsynonymous variants rs6232, encoding N221D, and rs6234-rs6235, encoding the Q665E-S690T pair, were consistently associated with obesity in adults and children (P = 7.27 x 10(-8) and P = 2.31 x 10(-12), respectively). Functional analysis showed a significant impairment of the N221D-mutant PC1/3 protein catalytic activity.

Subject headings and genre

  • Adult
  • Case-Control Studies
  • Child
  • European Continental Ancestry Group
  • Genetic Predisposition to Disease
  • Humans
  • Obesity
  • genetics
  • metabolism
  • Polymorphism
  • Single Nucleotide
  • Proprotein Convertase 1
  • genetics
  • metabolism

Added entries (persons, corporate bodies, meetings, titles ...)

  • Creemers, John W M (author)
  • Choquet, Helene (author)
  • Lobbens, Stephane (author)
  • Dina, Christian (author)
  • Durand, Emmanuelle (author)
  • Guerardel, Audrey (author)
  • Boutin, Philippe (author)
  • Jouret, Beatrice (author)
  • Heude, Barbara (author)
  • Balkau, Beverley (author)
  • Tichet, Jean (author)
  • Marre, Michel (author)
  • Potoczna, Natascha (author)
  • Horber, Fritz (author)
  • Le Stunff, Catherine (author)
  • Czernichow, Sebastien (author)
  • Sandbaek, Annelli (author)
  • Lauritzen, Torsten (author)
  • Borch-Johnsen, Knut (author)
  • Andersen, Gitte (author)
  • Kiess, Wieland (author)
  • Körner, Antje (author)
  • Kovacs, Peter (author)
  • Jacobson, Peter,1962Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine(Swepub:gu)xjacop (author)
  • Carlsson, Lena M S,1957Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine(Swepub:gu)xcarle (author)
  • Walley, Andrew J (author)
  • Jørgensen, Torben (author)
  • Hansen, Torben (author)
  • Pedersen, Oluf (author)
  • Meyre, David (author)
  • Froguel, Philippe (author)
  • Göteborgs universitetInstitutionen för medicin, avdelningen för molekylär och klinisk medicin (creator_code:org_t)

Related titles

  • In:Nature genetics: Springer Science and Business Media LLC40:8, s. 943-51546-17181061-4036

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