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).
Conclusion: The findings suggest that rare genetic imbalance affecting cardiovascular system development may contribute to the risk of CeAD. Validation of these findings in independent study populations is warranted.Keywords: Copy number variation, Cervical artery dissection, Rare genetic variation, Cardiovascular system development.
Current Genomics
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).
Conclusion: The findings suggest that rare genetic imbalance affecting cardiovascular system development may contribute to the risk of CeAD. Validation of these findings in independent study populations is warranted.Export Options
About this article
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
DOI https://dx.doi.org/10.2174/1389202917666160805152627 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Advanced AI Techniques in Big Genomic Data Analysis
The thematic issue on "Advanced AI Techniques in Big Genomic Data Analysis" aims to explore the cutting-edge methodologies and applications of artificial intelligence (AI) in the realm of genomic research, where vast amounts of data pose both challenges and opportunities. This issue will cover a broad spectrum of AI-driven strategies, ...read more
Advanced Computational Algorithms and Artificial Intelligence in Clinical Pharmacogenomics
In the era of personalized medicine, understanding the relationship between genetics and drug response is crucial. This issue delves into innovative methodologies, leveraging deep computational analysis and artificial intelligence, to enhance the field of Clinical Pharmacogenomics. The interdisciplinary approach harnesses the power of advanced high-throughput genotyping technologies, sophisticated computational analysis, ...read more
Applications of Single-cell Sequencing Technology in Reproductive Medicine
Single cell sequencing (SCS) technology utilizes individual cells' genetic material to sequence their genome, transcriptome, and epigenetics at the molecular level. It offers insights into cell heterogeneity and enables the study of limited biological materials. Since its recognition as a valuable technique in 2011, single cell sequencing has yielded numerous ...read more
Big Data in Cancer Research
Cancer is a significant threat to human life and health, remaining a highly aggressive killer. It is a leading cause of death worldwide and represents a crucial medical issue for humanity. However, in the past decade, the effectiveness of new synthetic anticancer agents has not matched the current clinical speculation. ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Preterm Birth and Renin-Angiotensin-Aldosterone System: Evidences of Activation and Impact on Chronic Cardiovascular Disease Risks
Protein & Peptide Letters Safety and Efficacy of Aliskiren in the Treatment of Hypertension and Associated Clinical Conditions
Current Drug Safety Cholesteryl Ester Transfer Protein: Pharmacological Inhibition for the Modulation of Plasma Cholesterol Levels and Promising Target for the Prevention of Atherosclerosis.
Current Topics in Medicinal Chemistry Anti-diabetic Drug Metformin: Challenges and Perspectives for Cancer Therapy
Current Cancer Drug Targets Stroke as a Consequence of Sleep Apnea: Epidemiology, Pathophysiology and Treatment Strategies
Current Respiratory Medicine Reviews Big Science for Small Cells: Systems Approaches for Platelets
Current Drug Targets Oxidative Stress and Antioxidants in Hypertension–A Current Review
Current Hypertension Reviews Development and Clinical use of Prasugrel and Ticagrelor
Current Pharmaceutical Design Characterization of Pharmaceutical IgG and Biosimilars Using Miniaturized Platforms and LC-MS/MS
Current Pharmaceutical Biotechnology Restless Leg Syndrome Associated with Atypical Antipsychotics: Current Status, Pathophysiology, and Clinical Implications
Current Drug Safety A1 Adenosine Receptor Agonists: Medicinal Chemistry and Therapeutic Potential
Current Pharmaceutical Design Obesity and Metabolic Syndrome Affect the Cholinergic Transmission a nd Cognitive Functions
CNS & Neurological Disorders - Drug Targets Malignancy and Radiation-Induced Cardiotoxicity
Cardiovascular & Hematological Disorders-Drug Targets Fas Ligand Gene Therapy for Vascular Intimal Hyperplasia
Current Gene Therapy Patent Selections
Recent Patents on CNS Drug Discovery (Discontinued) Screening Neuroprotective Agents Through 4-hydroxynonenal, Ethanol, High Glucose, Homocysteine, Okadaic Acid, Rotenone, and Oxygen-Glucose Deprivation Induced PC12 Injury Models: A Review
Current Psychopharmacology Refractory Angina Pectoris: Lessons from the Past and Current Perspectives
Current Pharmaceutical Design Lipids and Non-Cardiac Vascular Disease: A Lecture Overview
Current Vascular Pharmacology Complications of the Chest Wall and the Respiratory System After Surgery and Functional Performance
Current Respiratory Medicine Reviews Angiotensin Converting Enzyme Inhibitory Peptides Derived from Food Proteins: Biochemistry, Bioactivity and Production
Current Pharmaceutical Design