Genome-wide association analysis for severity of coronary artery disease using the gensini scoring system

Coronary artery disease (CAD) has a complex etiology involving numerous environmental and genetic factors of disease risk. To date, the genetic 9p21 locus represents the most robust genetic finding for prevalent and incident CAD. However, limited information is available on the genetic background of...

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Bibliographic Details
Main Authors: Zeller, Tanja (Author) , Kleber, Marcus E. (Author) , März, Winfried (Author)
Format: Article (Journal)
Language:English
Published: 20 September 2017
In: Frontiers in Cardiovascular Medicine
Year: 2017, Volume: 4, Pages: 1-6
ISSN:2297-055X
DOI:10.3389/fcvm.2017.00057
Online Access:Verlag, kostenfrei, Volltext: http://dx.doi.org/10.3389/fcvm.2017.00057
Verlag, kostenfrei, Volltext: https://www.frontiersin.org/articles/10.3389/fcvm.2017.00057/full
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Author Notes:Tanja Zeller, Moritz Seiffert, Christian Müller, Markus Scholz, Anna Schäffer, Francisco Ojeda, Heinz Drexel, Axel Mündlein, Marcus E. Kleber, Winfried März, Christoph Sinning, Fabian J. Brunner, Christoph Waldeyer, Till Keller, Christoph H. Saely, Karsten Sydow, Joachim Thiery, Daniel Teupser, Stefan Blankenberg and Renate Schnabel
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Summary:Coronary artery disease (CAD) has a complex etiology involving numerous environmental and genetic factors of disease risk. To date, the genetic 9p21 locus represents the most robust genetic finding for prevalent and incident CAD. However, limited information is available on the genetic background of the severity and distribution of CAD. CAD manifests itself as stable CAD or acute coronary syndrome. The Gensini score quantifies the extent CAD but requires coronary-angiography. Here, we aimed to identify novel genetic variants associated with Gensini score severity and distribution of CAD. A 2-stage approach including a discovery and replication stage was used to assess genetic variants. In the discovery phase, a meta-analysis of genome-wide association data of 4,930 CAD-subjects assessed by the Gensini score was performed. Selected single nucleotide polymorphisms (SNPs) were replicated in 2,283 CAD-subjects by de novo genotyping. Five SNPs, located on chromosome 2 and 9, were selected for replication. SNP rs133349, located within the know CAD-locus on chromosome 9p21, was confirmed as a risk locus for CAD severity. No additional strong susceptibility loci of CAD severity were identified.
Item Description:Gesehen am 24.07.2018
Physical Description:Online Resource
ISSN:2297-055X
DOI:10.3389/fcvm.2017.00057