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NMDA receptor gene variations as modifiers in Huntington disease: a replication study.

Saft, C; Epplen, JT; Wieczorek, S; Landwehrmeyer, GB; Roos, RA; de Yebenes, JG; Dose, M; ... Arning, L; + view all (2011) NMDA receptor gene variations as modifiers in Huntington disease: a replication study. PLoS Currents Huntington Disease , 3 , Article RRN1247. 10.1371/currents.RRN1247. Green open access

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Abstract

Several candidate modifier genes which, in addition to the pathogenic CAG repeat expansion, influence the age at onset (AO) in Huntington disease (HD) have already been described. The aim of this study was to replicate association of variations in the N-methyl D-aspartate receptor subtype genes GRIN2A and GRIN2B in the "REGISTRY" cohort from the European Huntington Disease Network (EHDN). The analyses did replicate the association reported between the GRIN2A rs2650427 variation and AO in the entire cohort. Yet, when subjects were stratified by AO subtypes, we found nominally significant evidence for an association of the GRIN2A rs1969060 variation and the GRIN2B rs1806201 variation. These findings further implicate the N-methyl D-aspartate receptor subtype genes as loci containing variation associated with AO in HD.

Type: Article
Title: NMDA receptor gene variations as modifiers in Huntington disease: a replication study.
Location: US
Open access status: An open access version is available from UCL Discovery
DOI: 10.1371/currents.RRN1247
Publisher version: http://dx.doi.org/10.1371/currents.RRN1247
Language: English
Additional information: © 2011 Saft C et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. PMCID: PMC3186947
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 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/1328045
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