Standard
Common nonsynonymous variants in PCSK1 confer risk of obesity. / Benzinou, Michael; Creemers, John W M; Choquet, Helene; Lobbens, Stephane; Dina, Christian; Durand, Emmanuelle; Guerardel, Audrey; Boutin, Philippe; Jouret, Beatrice; Heude, Barbara; Balkau, Beverley; Tichet, Jean; Marre, Michel; Potoczna, Natascha; Horber, Fritz; Le Stunff, Catherine; Czernichow, Sebastien; Sandbæk, Annelli; Lauritzen, Torsten; Borch-Johnsen, Knut; Andersen, Gitte; Kiess, Wieland; Körner, Antje; Kovacs, Peter; Jacobson, Peter; Carlsson, Lena M S; Walley, Andrew J; Jørgensen, Torben; Hansen, Torben; Pedersen, Oluf; Meyre, David; Froguel, Philippe.
In:
Nature Genetics, Vol. 40, No. 8, 2008, p. 943-5.
Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
Benzinou, M, Creemers, JWM, Choquet, H, Lobbens, S, Dina, C, Durand, E, Guerardel, A, Boutin, P, Jouret, B, Heude, B, Balkau, B, Tichet, J, Marre, M, Potoczna, N, Horber, F, Le Stunff, C, Czernichow, S, Sandbæk, A, Lauritzen, T, Borch-Johnsen, K, Andersen, G, Kiess, W, Körner, A, Kovacs, P, Jacobson, P, Carlsson, LMS, Walley, AJ, Jørgensen, T
, Hansen, T, Pedersen, O, Meyre, D & Froguel, P 2008, '
Common nonsynonymous variants in PCSK1 confer risk of obesity.',
Nature Genetics, vol. 40, no. 8, pp. 943-5.
https://doi.org/10.1038/ng.177APA
Benzinou, M., Creemers, J. W. M., Choquet, H., Lobbens, S., Dina, C., Durand, E., Guerardel, A., Boutin, P., Jouret, B., Heude, B., Balkau, B., Tichet, J., Marre, M., Potoczna, N., Horber, F., Le Stunff, C., Czernichow, S., Sandbæk, A., Lauritzen, T., ... Froguel, P. (2008).
Common nonsynonymous variants in PCSK1 confer risk of obesity. Nature Genetics,
40(8), 943-5.
https://doi.org/10.1038/ng.177Vancouver
Benzinou M, Creemers JWM, Choquet H, Lobbens S, Dina C, Durand E et al.
Common nonsynonymous variants in PCSK1 confer risk of obesity. Nature Genetics. 2008;40(8):943-5.
https://doi.org/10.1038/ng.177Author
Benzinou, Michael ; Creemers, John W M ; Choquet, Helene ; Lobbens, Stephane ; Dina, Christian ; Durand, Emmanuelle ; Guerardel, Audrey ; Boutin, Philippe ; Jouret, Beatrice ; Heude, Barbara ; Balkau, Beverley ; Tichet, Jean ; Marre, Michel ; Potoczna, Natascha ; Horber, Fritz ; Le Stunff, Catherine ; Czernichow, Sebastien ; Sandbæk, Annelli ; Lauritzen, Torsten ; Borch-Johnsen, Knut ; Andersen, Gitte ; Kiess, Wieland ; Körner, Antje ; Kovacs, Peter ; Jacobson, Peter ; Carlsson, Lena M S ; Walley, Andrew J ; Jørgensen, Torben ; Hansen, Torben ; Pedersen, Oluf ; Meyre, David ; Froguel, Philippe. / Common nonsynonymous variants in PCSK1 confer risk of obesity. In: Nature Genetics. 2008 ; Vol. 40, No. 8. pp. 943-5.
Bibtex
@article{636a9400acda11ddb538000ea68e967b,
title = "Common nonsynonymous variants in PCSK1 confer risk of obesity.",
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.",
author = "Michael Benzinou and Creemers, {John W M} and Helene Choquet and Stephane Lobbens and Christian Dina and Emmanuelle Durand and Audrey Guerardel and Philippe Boutin and Beatrice Jouret and Barbara Heude and Beverley Balkau and Jean Tichet and Michel Marre and Natascha Potoczna and Fritz Horber and {Le Stunff}, Catherine and Sebastien Czernichow and Annelli Sandb{\ae}k and Torsten Lauritzen and Knut Borch-Johnsen and Gitte Andersen and Wieland Kiess and Antje K{\"o}rner and Peter Kovacs and Peter Jacobson and Carlsson, {Lena M S} and Walley, {Andrew J} and Torben J{\o}rgensen and Torben Hansen and Oluf Pedersen and David Meyre and Philippe Froguel",
note = "Keywords: Adult; Case-Control Studies; Child; European Continental Ancestry Group; Genetic Predisposition to Disease; Humans; Obesity; Polymorphism, Single Nucleotide; Proprotein Convertase 1",
year = "2008",
doi = "10.1038/ng.177",
language = "English",
volume = "40",
pages = "943--5",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "nature publishing group",
number = "8",
}
RIS
TY - JOUR
T1 - Common nonsynonymous variants in PCSK1 confer risk of obesity.
AU - Benzinou, Michael
AU - Creemers, John W M
AU - Choquet, Helene
AU - Lobbens, Stephane
AU - Dina, Christian
AU - Durand, Emmanuelle
AU - Guerardel, Audrey
AU - Boutin, Philippe
AU - Jouret, Beatrice
AU - Heude, Barbara
AU - Balkau, Beverley
AU - Tichet, Jean
AU - Marre, Michel
AU - Potoczna, Natascha
AU - Horber, Fritz
AU - Le Stunff, Catherine
AU - Czernichow, Sebastien
AU - Sandbæk, Annelli
AU - Lauritzen, Torsten
AU - Borch-Johnsen, Knut
AU - Andersen, Gitte
AU - Kiess, Wieland
AU - Körner, Antje
AU - Kovacs, Peter
AU - Jacobson, Peter
AU - Carlsson, Lena M S
AU - Walley, Andrew J
AU - Jørgensen, Torben
AU - Hansen, Torben
AU - Pedersen, Oluf
AU - Meyre, David
AU - Froguel, Philippe
N1 - Keywords: Adult; Case-Control Studies; Child; European Continental Ancestry Group; Genetic Predisposition to Disease; Humans; Obesity; Polymorphism, Single Nucleotide; Proprotein Convertase 1
PY - 2008
Y1 - 2008
N2 - 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.
AB - 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.
U2 - 10.1038/ng.177
DO - 10.1038/ng.177
M3 - Journal article
C2 - 18604207
VL - 40
SP - 943
EP - 945
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 8
ER -
