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1.	Benzinou, Michael, et al. (author) Common nonsynonymous variants in PCSK1 confer risk of obesity. 2008 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 40:8, s. 943-5 Journal article (peer-reviewed)abstract 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.
2.	Dina, Christian, et al. (author) Variation in FTO contributes to childhood obesity and severe adult obesity. 2007 In: Nature genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:6, s. 724-6 Journal article (peer-reviewed)abstract We identified a set of SNPs in the first intron of the FTO (fat mass and obesity associated) gene on chromosome 16q12.2 that is consistently strongly associated with early-onset and severe obesity in both adults and children of European ancestry with an experiment-wise P value of 1.67 x 10(-26) in 2,900 affected individuals and 5,100 controls. The at-risk haplotype yields a proportion of attributable risk of 22% for common obesity. We conclude that FTO contributes to human obesity and hence may be a target for subsequent functional analyses.

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Type of publication: journal article (2)

Type of content: peer-reviewed (2)

Author/Editor: Carlsson, Lena M S, ... (2); Jacobson, Peter, 196 ... (2); Froguel, Philippe (2); Meyre, David (2); Kovacs, Peter (2); Balkau, Beverley (2); show more...; Dina, Christian (2); Durand, Emmanuelle (2); Marre, Michel (2); Potoczna, Natascha (2); Horber, Fritz (2); Le Stunff, Catherine (2); Kiess, Wieland (2); Körner, Antje (2); Pedersen, Oluf (1); Hansen, Torben (1); Jørgensen, Torben (1); Pattou, Francois (1); Hercberg, Serge (1); Borch-Johnsen, Knut (1); Lecoeur, Cecile (1); Lobbens, Stephane (1); Ruiz, Juan (1); Benzinou, Michael (1); Creemers, John W M (1); Choquet, Helene (1); Guerardel, Audrey (1); Boutin, Philippe (1); Jouret, Beatrice (1); Heude, Barbara (1); Tichet, Jean (1); Czernichow, Sebastie ... (1); Sandbaek, Annelli (1); Lauritzen, Torsten (1); Andersen, Gitte (1); Walley, Andrew J (1); Cauchi, Stephane (1); Gallina, Sophie (1); Vatin, Vincent (1); Delplanque, Jérome (1); Vaillant, Emmanuel (1); Weill, Jacques (1); Levy-Marchal, Claire (1); Bougnères, Pierre (1); Chèvre, Jean-Claude (1); show less...

University: University of Gothenburg (2)

Language: English (2)

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