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HECTD2, a candidate susceptibility gene for Alzheimer's disease on 10q

Lloyd, SE; Rossor, M; Fox, N; Mead, S; Collinge, J; (2009) HECTD2, a candidate susceptibility gene for Alzheimer's disease on 10q. BMC Medical Genetics , 10 , Article 90. 10.1186/1471-2350-10-90. Green open access

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Abstract

Background: Late onset Alzheimer's disease (LOAD) is a neurodegenerative disorder characterised by the deposition of amyloid plaques and neurofibrillary tangles in the brain and is the major cause of dementia. Multiple genetic loci, including 10q, have been implicated in LOAD but to date, with the exception of APOE, the underlying genes have not been identified. HECTD2 maps to 10q and has been implicated in susceptibility to human prion diseases which are also neurodegenerative conditions associated with accumulation of misfolded host proteins. In this study we test whether the HECTD2 susceptibility allele seen in prion disease is also implicated in LOAD.Methods: DNA from 320 individuals with Alzheimer's disease and 601 controls were genotyped for a HECTD2 intronic tagging SNP, rs12249854 (A/T). Groups were further analysed following stratification by APOE genotype.Results: The rs12249854 minor allele (A) frequency was higher (5.8%) in the Alzheimer's disease group as compared to the controls (3.9%), however, this was not statistically significant (P = 0.0668). No significant difference was seen in minor allele frequency in the presence or absence of the APOE epsilon 4 allele.Conclusion: The common haplotypes of HECTD2, tagged by rs12249854, are not associated with susceptibility to LOAD.

Type: Article
Title: HECTD2, a candidate susceptibility gene for Alzheimer's disease on 10q
Open access status: An open access version is available from UCL Discovery
DOI: 10.1186/1471-2350-10-90
Publisher version: http://dx.doi.org/10.1186/1471-2350-10-90
Language: English
Additional information: © 2009 Lloyd et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Keywords: CREUTZFELDT-JAKOB-DISEASE, INSULIN-DEGRADING ENZYME, GENOME-WIDE ASSOCIATION, TRAIT LOCI, INCUBATION PERIOD, PLASMA A-BETA-42, APOLIPOPROTEIN-E, PROTEIN GENE, LINKAGE, RISK
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Institute of Prion Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Institute of Prion Diseases > MRC Prion Unit at UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/146076
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