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GWAS Study

Genome-Wide Association Analysis for Severity of Coronary Artery Disease Using the Gensini Scoring System.

Zeller T, Seiffert M, Müller C et al.

28979897 PubMed ID
GWAS Study Type
7214 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

ZT
Zeller T
SM
Seiffert M
MC
Müller C
SM
Scholz M
SA
Schäffer A
OF
Ojeda F
DH
Drexel H
MA
Mündlein A
KM
Kleber ME
MW
März W
SC
Sinning C
BF
Brunner FJ
WC
Waldeyer C
KT
Keller T
SC
Saely CH
SK
Sydow K
TJ
Thiery J
TD
Teupser D
BS
Blankenberg S
SR
Schnabel R
Chapter II

Abstract

Summary of the research findings

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 two-stage approach including a discovery and a 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. We identified genetic loci located on chromosome 2 and 9 to be associated with Gensini score severity and distribution of CAD in the discovery stage. Although the loci on chromosome 2 could not be replicated in the second stage, the known CAD-locus on chromosome 9p21, represented by rs133349, was identified and, thus, was confirmed as risk locus for CAD severity.

4,931 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

7214
Total Participants
GWAS
Study Type
Yes
Replicated
2,283 European ancestry individuals
Replication Participants
European
Ancestry
Austria, Germany
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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