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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2013

Open Access 01-12-2013 | Research article

Assessment of the 9p21.3 locus in severity of coronary artery disease in the presence and absence of type 2 diabetes

Authors: Natalia V Rivera, Robert Carreras-Torres, Roberta Roncarati, Chiara Viviani-Anselmi, Francesca De Micco, Alessandra Mezzelani, Werner Koch, Petra Hoppmann, Adnan Kastrati, Alexandre FR Stewart, Li Chen, Robert Roberts, Lennart C Karssen, Najaf Amin, Valentina Trimarco, Raffaele Izzo, Guido Iaccarino, Gerolama Condorelli, Annibale A Puca, Paolo Pagnotta, Flavio Airoldi, Bruno Trimarco, Cornelia M van Duijn, Gianluigi Condorelli, Carlo Briguori

Published in: BMC Medical Genetics | Issue 1/2013

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Abstract

Background

The 9p21.3 locus is strongly associated with the risk of coronary artery disease (CAD) and with type 2 diabetes (T2D). We investigated the association of 9p21.3 variants with severity of CAD (defined by the number of vessel diseased [VD]) in the presence and absence of T2D.

Methods

We tested 11 9p21.3-variants for association in a white Italian study (N = 2,908), and carried out replication in 2 independent white populations, a German study (N = 2,028) and a Canadian Study (N=950). SNP association and permutation analyses were conducted.

Results

We identified two 9p21.3-variants, rs4977574 (P < 4×10-4) and rs2383207 (P < 1.5×10-3) that were associated with severity of CAD in subjects without T2D. Association of rs4977574 with severity of CAD was confirmed in the Canadian Study. Results from subgroup analysis among patients with T2D showed an interaction between rs10738610 and T2D with P = 4.82×10-2. Further investigation showed that rs10738610 (P < 1.99×10-2) was found to be significantly associated with severity of CAD in subjects with T2D.

Conclusions

The 9p21.3 locus is significantly associated with severity of CAD. The number of associations of 9p21.3 variants with severity of CAD is variable to the presence and absence of T2D. In a CAD-susceptible region of 115 kb, there is only one variant associated with the severity of coronary vessel disease in the presence of type 2 diabetes.
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Metadata
Title
Assessment of the 9p21.3 locus in severity of coronary artery disease in the presence and absence of type 2 diabetes
Authors
Natalia V Rivera
Robert Carreras-Torres
Roberta Roncarati
Chiara Viviani-Anselmi
Francesca De Micco
Alessandra Mezzelani
Werner Koch
Petra Hoppmann
Adnan Kastrati
Alexandre FR Stewart
Li Chen
Robert Roberts
Lennart C Karssen
Najaf Amin
Valentina Trimarco
Raffaele Izzo
Guido Iaccarino
Gerolama Condorelli
Annibale A Puca
Paolo Pagnotta
Flavio Airoldi
Bruno Trimarco
Cornelia M van Duijn
Gianluigi Condorelli
Carlo Briguori
Publication date
01-12-2013
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2013
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/1471-2350-14-11

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