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Common genetic variants do not associate with CAD in familial hypercholesterolemia

Overview of attention for article published in European Journal of Human Genetics, November 2013
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Title
Common genetic variants do not associate with CAD in familial hypercholesterolemia
Published in
European Journal of Human Genetics, November 2013
DOI 10.1038/ejhg.2013.242
Pubmed ID
Authors

Erik P A van Iperen, Suthesh Sivapalaratnam, S Matthijs Boekholdt, G Kees Hovingh, Stephanie Maiwald, Michael W Tanck, Nicole Soranzo, Jonathan C Stephens, Jennifer G Sambrook, Marcel Levi, Willem H Ouwehand, John JP Kastelein, Mieke D Trip, Aeilko H Zwinderman

Abstract

In recent years, multiple loci dispersed on the genome have been shown to be associated with coronary artery disease (CAD). We investigated whether these common genetic variants also hold value for CAD prediction in a large cohort of patients with familial hypercholesterolemia (FH). We genotyped a total of 41 single-nucleotide polymorphisms (SNPs) in 1701 FH patients, of whom 482 patients (28.3%) had at least one coronary event during an average follow up of 66 years. The association of each SNP with event-free survival time was calculated with a Cox proportional hazard model. In the cardiovascular disease risk factor adjusted analysis, the most significant SNP was rs1122608:G>T in the SMARCA4 gene near the LDL-receptor (LDLR) gene, with a hazard ratio for CAD risk of 0.74 (95% CI 0.49-0.99; P-value 0.021). However, none of the SNPs reached the Bonferroni threshold. Of all the known CAD loci analyzed, the SMARCA4 locus near the LDLR had the strongest negative association with CAD in this high-risk FH cohort. The effect is contrary to what was expected. None of the other loci showed association with CAD.

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Mendeley readers

The data shown below were compiled from readership statistics for 30 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Netherlands 1 3%
Unknown 29 97%

Demographic breakdown

Readers by professional status Count As %
Student > Master 7 23%
Student > Ph. D. Student 6 20%
Researcher 4 13%
Student > Doctoral Student 2 7%
Other 1 3%
Other 3 10%
Unknown 7 23%
Readers by discipline Count As %
Medicine and Dentistry 7 23%
Biochemistry, Genetics and Molecular Biology 6 20%
Agricultural and Biological Sciences 5 17%
Environmental Science 1 3%
Psychology 1 3%
Other 1 3%
Unknown 9 30%