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.
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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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