Genetic Imbalance in Patients with Cervical Artery Dissection

Title:Genetic Imbalance in Patients with Cervical Artery Dissection

Volume: 18 Issue: 2

Author(s): Antti J. Metso, for the CADISP group, Stefan T. Engelter, Philippe A. Lyrer, Didier Leys, Turgut Tatlisumak, Elisabetta Del Zotto, Emmanuel Touze, Vincent Thijs, Stefan Schreiber, Christopher Traenka, Alessandro Pezzini, Christoph Lichy, Manja Kloss, Armin J. Grau, Tiina M. Metso, Caspar Grond-Ginsbach, Juan-Jose Martin, Giacomo Giacalone, Andreas Geschwendtner, Martin Dichgans, Stephanie Debette, Valeria Caso, Tobias Brandt, Anna Bersano, Marie-Luise Arnold, Sherine Abboud, Yanxiang Jiang, Philip Ginsbach, Rastislav Pjontek, Michael Krawczak and Bowang Chen

Affiliation:

Keywords: Copy number variation, Cervical artery dissection, Rare genetic variation, Cardiovascular system development.

Abstract: Background: Genetic and environmental risk factors are assumed to contribute to the susceptibility to cervical artery dissection (CeAD). To explore the role of genetic imbalance in the etiology of CeAD, copy number variants (CNVs) were identified in high-density microarrays samples from the multicenter CADISP (Cervical Artery Dissection and Ischemic Stroke Patients) study and from control subjects from the CADISP study and the German PopGen biobank. Microarray data from 833 CeAD patients and 2040 control subjects (565 subjects with ischemic stroke due to causes different from CeAD and 1475 disease-free individuals) were analyzed. Rare genic CNVs were equally frequent in CeAD-patients (16.4%; n=137) and in control subjects (17.0%; n=346) but differed with respect to their genetic content. Compared to control subjects, CNVs from CeAD patients were enriched for genes associated with muscle organ development and cell differentiation, which suggests a possible association with arterial development. CNVs affecting cardiovascular system development were more common in CeAD patients than in control subjects (p=0.003; odds ratio (OR) =2.5; 95% confidence interval (95% CI) =1.4-4.5) and more common in patients with a familial history of CeAD than in those with sporadic CeAD (p=0.036; OR=11.2; 95% CI=1.2-107).

Cite this article as:

Metso J. Antti, for the CADISP group , Engelter T. Stefan, Lyrer A. Philippe, Leys Didier, Tatlisumak Turgut, Zotto Del Elisabetta, Touze Emmanuel, Thijs Vincent, Schreiber Stefan, Traenka Christopher, Pezzini Alessandro, Lichy Christoph, Kloss Manja, Grau J. Armin, Metso M. Tiina, Grond-Ginsbach Caspar, Martin Juan-Jose, Giacalone Giacomo, Geschwendtner Andreas, Dichgans Martin, Debette Stephanie, Caso Valeria, Brandt Tobias, Bersano Anna, Arnold Marie-Luise, Abboud Sherine, Jiang Yanxiang, Ginsbach Philip, Pjontek Rastislav, Krawczak Michael and Chen Bowang, Genetic Imbalance in Patients with Cervical Artery Dissection, Current Genomics 2017; 18 (2) . https://dx.doi.org/10.2174/1389202917666160805152627