Abstract
Adult-onset neuropsychiatric diseases are one of the most challenging areas of medicine. While symptomatic treatments are available, for most of these diseases the exact pathomechanism is not known, thus, disease-modifying therapies are difficult to conceptualize and find. The two most common and best studied neuropsychiatric diseases affecting higher cortical functions in humans are schizophrenia and Alzheimer’s disease; both diseases have high heritability, however, the genetic architecture is not fully elucidated. Robust Single Nucleotide Variant (SNV) studies have identified several loci with modest effect sizes. While Copy Number Variants (CNV) make an important contribution to genetic variation, CNV GWAS suffer from dependence on mainly SNP arrays with underperforming genotyping accuracy. We evaluated dynamic range of the assays for three types of CNV loci, including biallelic deletion, high copy gain, and fusion gene, to assess the depth of exploration of the contribution of CNVs to disease susceptibility. Despite the suboptimal genotyping, novel mechanisms are emerging and further large-scale studies with genotyping assays optimized for CNV detection are needed. Furthermore, the CHRFAM7A human-specific fusion gene association warrants large scale locus specific association studies in AD, schizophrenia, bipolar disorder and ADHD.
Keywords: Copy number variation, CNV, GWAS, Neuropsychiatric diseases, Adult onset, Structural variants.
Current Genomics
Title:Copy Number Variations in Adult-onset Neuropsychiatric Diseases
Volume: 19 Issue: 6
Author(s): Alexandra R. Lew, Timot R. Kellermayer, Balint P. Sule and Kinga Szigeti*
Affiliation:
- Department of Neurology, University at Buffalo, SUNY, Buffalo, NY 14203,United States
Keywords: Copy number variation, CNV, GWAS, Neuropsychiatric diseases, Adult onset, Structural variants.
Abstract: Adult-onset neuropsychiatric diseases are one of the most challenging areas of medicine. While symptomatic treatments are available, for most of these diseases the exact pathomechanism is not known, thus, disease-modifying therapies are difficult to conceptualize and find. The two most common and best studied neuropsychiatric diseases affecting higher cortical functions in humans are schizophrenia and Alzheimer’s disease; both diseases have high heritability, however, the genetic architecture is not fully elucidated. Robust Single Nucleotide Variant (SNV) studies have identified several loci with modest effect sizes. While Copy Number Variants (CNV) make an important contribution to genetic variation, CNV GWAS suffer from dependence on mainly SNP arrays with underperforming genotyping accuracy. We evaluated dynamic range of the assays for three types of CNV loci, including biallelic deletion, high copy gain, and fusion gene, to assess the depth of exploration of the contribution of CNVs to disease susceptibility. Despite the suboptimal genotyping, novel mechanisms are emerging and further large-scale studies with genotyping assays optimized for CNV detection are needed. Furthermore, the CHRFAM7A human-specific fusion gene association warrants large scale locus specific association studies in AD, schizophrenia, bipolar disorder and ADHD.
Export Options
About this article
Cite this article as:
Lew R. Alexandra , Kellermayer R. Timot , Sule P. Balint and Szigeti Kinga *, Copy Number Variations in Adult-onset Neuropsychiatric Diseases, Current Genomics 2018; 19 (6) . https://dx.doi.org/10.2174/1389202919666180330153842
DOI https://dx.doi.org/10.2174/1389202919666180330153842 |
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
-
Statin Therapy-Evidence Beyond Lipid Lowering Contributing to Plaque Stability
Current Medicinal Chemistry 8-Hydroxyquinoline and Hydroxamic Acid Inhibitors of Botulinum Neurotoxin BoNT/A
Current Topics in Medicinal Chemistry Insulin-Degrading Enzyme: Structure-Function Relationship and its Possible Roles in Health and Disease
Current Pharmaceutical Design Targeted Radionuclide Therapy of Painful Bone Metastases: Past Developments, Current Status, Recent Advances and Future Directions
Current Medicinal Chemistry Brain Molecules and Appetite: The Case of Oleoylethanolamide
Central Nervous System Agents in Medicinal Chemistry Predicting Monoamine Oxidase Inhibitory Activity Through Ligand-Based Models
Current Topics in Medicinal Chemistry Diagnosis and Possible Use of Traditional Medicinal Plant to combat COVID-19
Coronaviruses Palmitoylethanolamide Reduces Formalin-Induced Neuropathic-Like Behaviour Through Spinal Glial/Microglial Phenotypical Changes in Mice
CNS & Neurological Disorders - Drug Targets 3,4-Dihydrospiro[piperidine-4,2-(1H)quinoline] Derivatives as New Antioxidant Agents with Acetylcholinesterase Inhibitory Property
Letters in Drug Design & Discovery Biomedical Applications of Superparamagnetic Nanoparticles in Molecular Scale
Current Organic Chemistry Nanoparticle-Based Gene Therapy Intervention for Stroke Treatment: A Systematic Review
Current Gene Therapy Quantitative Flow Measurements in the Internal Jugular Veins of Multiple Sclerosis Patients Using Magnetic Resonance Imaging
Reviews on Recent Clinical Trials NMN/NaMN Adenylyltransferase (NMNAT) and NAD Kinase (NADK) Inhibitors: Chemistry and Potential Therapeutic Applications
Current Medicinal Chemistry Effects of the Disease Characteristics and the Treatment on Psychological Status in Patients with Rheumatoid Arthritis and Ankylosing Spondylitis
Current Rheumatology Reviews Rational Design and Development of Colon-Specific Prodrugs
Current Topics in Medicinal Chemistry Polynuclear Ruthenium, Osmium and Gold Complexes. The Quest for Innovative Anticancer Chemotherapeutics
Current Topics in Medicinal Chemistry Commentary Research Highlights (Amyloid β-Peptide and Alzheimer’s Disease: It’s All the RAGE)
CNS & Neurological Disorders - Drug Targets A Pyridinium-substituted Analog of the TRH-like Tripeptide pGlu-Glu- Pro-NH2 and its Prodrugs as Central Nervous System Agents
Medicinal Chemistry Vascular Patency: A Biomarker and Clinical Target Quantified with High Resolution MRI and Novel Cellular Pathways
Current Neurovascular Research Experimental Temperature Compensation on Drop-On-Demand Inkjet Printing
Micro and Nanosystems