Genomics

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Erasmus MC - ARGOS study Data Access Committee

ABSTRACT: Data Access Committee EGAC00001000182

PROVIDER: EGAC00001000182 | EGA |

REPOSITORIES: EGA

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Publications

Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach.

Versmissen Jorie J   Oosterveer Daniëlla M DM   Yazdanpanah Mojgan M   Dehghan Abbas A   Hólm Hilma H   Erdman Jeanette J   Aulchenko Yurii S YS   Thorleifsson Gudmar G   Schunkert Heribert H   Huijgen Roeland R   Vongpromek Ranitha R   Uitterlinden André G AG   Defesche Joep C JC   van Duijn Cornelia M CM   Mulder Monique M   Dadd Tony T   Karlsson Hróbjartur D HD   Ordovas Jose J   Kindt Iris I   Jarman Amelia A   Hofman Albert A   van Vark-van der Zee Leonie L   Blommesteijn-Touw Adriana C AC   Kwekkeboom Jaap J   Liem Anho H AH   van der Ouderaa Frans J FJ   Calandra Sebastiano S   Bertolini Stefano S   Averna Maurizio M   Langslet Gisle G   Ose Leiv L   Ros Emilio E   Almagro Fátima F   de Leeuw Peter W PW   Civeira Fernando F   Masana Luis L   Pintó Xavier X   Simoons Maarten L ML   Schinkel Arend F L AF   Green Martin R MR   Zwinderman Aeilko H AH   Johnson Keith J KJ   Schaefer Arne A   Neil Andrew A   Witteman Jacqueline C M JC   Humphries Steve E SE   Kastelein John J P JJ   Sijbrands Eric J G EJ  

European journal of human genetics : EJHG 20140611 3

Mutations in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH), a disorder characterized by coronary heart disease (CHD) at young age. We aimed to apply an extreme sampling method to enhance the statistical power to identify novel genetic risk variants for CHD in individuals with FH. We selected cases and controls with an extreme contrast in CHD risk from 17,000 FH patients from the Netherlands, whose functional LDLR mutation was unequivocally established.  ...[more]

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