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Common nonsynonymou...
Common nonsynonymous variants in PCSK1 confer risk of obesity.
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Benzinou, Michael (author)
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Creemers, John W M (author)
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Choquet, Helene (author)
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show more...
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Lobbens, Stephane (author)
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Dina, Christian (author)
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Durand, Emmanuelle (author)
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Guerardel, Audrey (author)
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Boutin, Philippe (author)
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Jouret, Beatrice (author)
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Heude, Barbara (author)
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Balkau, Beverley (author)
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Tichet, Jean (author)
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Marre, Michel (author)
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Potoczna, Natascha (author)
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Horber, Fritz (author)
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Le Stunff, Catherine (author)
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Czernichow, Sebastien (author)
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Sandbaek, Annelli (author)
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Lauritzen, Torsten (author)
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Borch-Johnsen, Knut (author)
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Andersen, Gitte (author)
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Kiess, Wieland (author)
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Körner, Antje (author)
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Kovacs, Peter (author)
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- Jacobson, Peter, 1962 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine
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- Carlsson, Lena M S, 1957 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine
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Walley, Andrew J (author)
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Jørgensen, Torben (author)
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Hansen, Torben (author)
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Pedersen, Oluf (author)
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Meyre, David (author)
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Froguel, Philippe (author)
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(creator_code:org_t)
- 2008-07-06
- 2008
- English.
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In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 40:8, s. 943-5
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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.
Keyword
- 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
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Benzinou, Michae ...
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Creemers, John W ...
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Choquet, Helene
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Lobbens, Stephan ...
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Dina, Christian
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Durand, Emmanuel ...
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show more...
-
Guerardel, Audre ...
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Boutin, Philippe
-
Jouret, Beatrice
-
Heude, Barbara
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Balkau, Beverley
-
Tichet, Jean
-
Marre, Michel
-
Potoczna, Natasc ...
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Horber, Fritz
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Le Stunff, Cathe ...
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Czernichow, Seba ...
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Sandbaek, Annell ...
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Lauritzen, Torst ...
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Borch-Johnsen, K ...
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Andersen, Gitte
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Kiess, Wieland
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Körner, Antje
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Kovacs, Peter
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Jacobson, Peter, ...
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Carlsson, Lena M ...
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Walley, Andrew J
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Jørgensen, Torbe ...
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Hansen, Torben
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Pedersen, Oluf
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Meyre, David
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Froguel, Philipp ...
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show less...
- Articles in the publication
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Nature genetics
- By the university
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University of Gothenburg