Abstract
Background: Alzheimer’s disease (AD) has a complex genetic etiology, and as a result many genes have been studied to determine how they might be involved with the disease. Amyloidogenic effects have been broadly linked with familial forms of the disease, though certain genes such as UBQLN1 could also play a role in prodromal phases such as amnesic mild cognitive impairment (MCI). Aim: The aim of this study is to examine the role of the UBQ-8i (rs12344615) functional polymorphism in the UBQLN1 gene as a risk factor for MCI and AD and its possible synergies with apolipoprotein gene E (APOE). Material & Methods: 215 MCI patients, 347 sporadic AD sufferers and 238 healthy controls from the Basque Country (Spain) were analysed. Clinical criteria and neuro-psychiatric tests were used to establish the diagnostic groups. SNP, UBQ-8i and the APOE gene were genotyped via real-time polymerase chain reaction (rtPCR), polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLPs) respectively. Multinomial logistic regression models were used to determine the risk for MCI and AD. Results: Allele C of rs12344615 of the UBQLN1 gene is not a risk factor for MCI or AD (OR = 0.88, CI95% 0.60-1.31 p7equal;s0.542 and OR = 0.73, CI95% 0.51-1.02 p=0.079, respectively). Moreover, genotypes with at least one C allele are observed not to show synergies with APOE*E4 in MCI or with AD sufferers. Conclusion: Allele C of polymorphism UBQ-8i of the UBQLN1 gene is not an independent risk factor for MCI or AD. Moreover, this allele is not observed to have any synergy effects with APOE*E4.
Keywords: Alzheimer, APOE, Factor, MCI, Risk, UBQLN1, ubiquilin, mild cognitive impairment (MCI)
Current Alzheimer Research
Title:UBQ-8i Polymorphism is not An Independent Risk Factor for Mild Cognitive Impairment and Alzheimer’s Disease in APOE-4 Carriers
Volume: 9 Issue: 4
Author(s): X. Elcoroaristizabal Martin, M. Fernandez Martinez, D. Gamarra Fernandez, F. Gomez Busto and L. Galdos Alcelay, M. J. Calzada Ferreras, J. Castro Flores, M. M. de Pancorbo
Affiliation:
Keywords: Alzheimer, APOE, Factor, MCI, Risk, UBQLN1, ubiquilin, mild cognitive impairment (MCI)
Abstract: Background: Alzheimer’s disease (AD) has a complex genetic etiology, and as a result many genes have been studied to determine how they might be involved with the disease. Amyloidogenic effects have been broadly linked with familial forms of the disease, though certain genes such as UBQLN1 could also play a role in prodromal phases such as amnesic mild cognitive impairment (MCI). Aim: The aim of this study is to examine the role of the UBQ-8i (rs12344615) functional polymorphism in the UBQLN1 gene as a risk factor for MCI and AD and its possible synergies with apolipoprotein gene E (APOE). Material & Methods: 215 MCI patients, 347 sporadic AD sufferers and 238 healthy controls from the Basque Country (Spain) were analysed. Clinical criteria and neuro-psychiatric tests were used to establish the diagnostic groups. SNP, UBQ-8i and the APOE gene were genotyped via real-time polymerase chain reaction (rtPCR), polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLPs) respectively. Multinomial logistic regression models were used to determine the risk for MCI and AD. Results: Allele C of rs12344615 of the UBQLN1 gene is not a risk factor for MCI or AD (OR = 0.88, CI95% 0.60-1.31 p7equal;s0.542 and OR = 0.73, CI95% 0.51-1.02 p=0.079, respectively). Moreover, genotypes with at least one C allele are observed not to show synergies with APOE*E4 in MCI or with AD sufferers. Conclusion: Allele C of polymorphism UBQ-8i of the UBQLN1 gene is not an independent risk factor for MCI or AD. Moreover, this allele is not observed to have any synergy effects with APOE*E4.
Export Options
About this article
Cite this article as:
X. Elcoroaristizabal Martin, M. Fernandez Martinez, D. Gamarra Fernandez, F. Gomez Busto and L. Galdos Alcelay, M. J. Calzada Ferreras, J. Castro Flores, M. M. de Pancorbo , UBQ-8i Polymorphism is not An Independent Risk Factor for Mild Cognitive Impairment and Alzheimer’s Disease in APOE-4 Carriers, Current Alzheimer Research 2012; 9 (4) . https://dx.doi.org/10.2174/156720512800492440
DOI https://dx.doi.org/10.2174/156720512800492440 |
Print ISSN 1567-2050 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5828 |
Call for Papers in Thematic Issues
New Advances in the Prevention, Diagnosis, Treatment, and Rehabilitation of Alzheimer's Disease
Aims and Scope: Introduction: Alzheimer's disease (AD) poses a significant global health challenge, with an increasing prevalence that demands concerted efforts to advance our understanding and strategies for prevention, diagnosis, treatment, and rehabilitation. This thematic issue aims to bring together cutting-edge research and innovative approaches from multidisciplinary perspectives to address ...read more
Current updates on the Role of Neuroinflammation in Neurodegenerative Disorders
Neuroinflammation is an invariable hallmark of chronic and acute neurodegenerative disorders and has long been considered a potential drug target for Alzheimer?s disease (AD) and dementia. Significant evidence of inflammatory processes as a feature of AD is provided by the presence of inflammatory markers in plasma, CSF and postmortem brain ...read more
Deep Learning for Advancing Alzheimer's Disease Research
Alzheimer's disease (AD) poses a significant global health challenge, with an increasing number of individuals affected yearly. Deep learning, a subfield of artificial intelligence, has shown immense potential in various domains, including healthcare. This thematic issue of Current Alzheimer Research explores the application of deep learning techniques in advancing our ...read more
Diagnostic and therapeutic biomarkers of dementia
Dementia affects 18 million people worldwide. Dementia is a syndrome of symptoms caused by brain disease, usually chronic or progressive, clinically characterized by multiple impairments of higher cortical functions such as memory, thinking, orientation, and learning. In addition, in the course of dementia, cognitive deficits are observed, which often hinder ...read more
- 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
-
Familial Mutations and Post-translational Modifications of UCH-L1 in Parkinson's Disease and Neurodegenerative Disorders
Current Protein & Peptide Science Genetic and Environmental Factors in Complex Neurodevelopmental Disorders
Current Genomics Gut Inflammation: Current Update on Pathophysiology, Molecular Mechanism and Pharmacological Treatment Modalities
Current Pharmaceutical Design Clinical Pharmacogenetics and Potential Application in Personalized Medicine
Current Drug Metabolism β-Hydroxy-β-Methylbutyrate as a Countermeasure for Cancer Cachexia: A Cellular and Molecular Rationale
Anti-Cancer Agents in Medicinal Chemistry Microwave Assisted Synthetic Approach of New Pyridine based Benzothiazepines: Their Antibacterial and Antifungal Activities
Current Microwave Chemistry Common Neurogenetic Diagnosis and Meso-Limbic Manipulation of Hypodopaminergic Function in Reward Deficiency Syndrome (RDS): Changing the Recovery Landscape
Current Neuropharmacology Meet Our Editorial Board Member
Current Neuropharmacology Therapeutic Monitoring of Immunotherapies in Autoimmune Diseases
Current Pharmaceutical Design Electrochemical Immunosensors for Disease Detection and Diagnosis
Current Medicinal Chemistry An Overview of Published Papers and Important Developments in the Past Three Years
Anti-Inflammatory & Anti-Allergy Agents in Medicinal Chemistry Effects of Vitamin C and E Against Oxidative Stress: Is Antioxidant Supplementation Efficient?
Current Nutraceuticals Are 5-HT Levels Increased in Depression?
Current Psychiatry Reviews Computational Studies Applied to Anti-inflammatory Drug Discovery: A Review
Current Organic Chemistry Virus-Associated Vasculitides: An Update
Current Immunology Reviews (Discontinued) Quetiapine Induced Hypomania: A Case Report and a Review of the Literature
Current Drug Safety Juvenile Systemic Lupus Erythematosus
Current Pediatric Reviews Immunonutrition in Surgical Patients
Current Drug Targets Increased Expression of the Remodeling- and Tumorigenic-Associated Factor Osteopontin in Pyramidal Neurons of the Alzheimers Disease Brain
Current Alzheimer Research Mitochondrial Oxidative Stress and Heart Failure ∼Novel Pathophysiological Insight and Treatment Strategies∼
Current Cardiology Reviews