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

Saft, Carsten; Epplen, Jörg T; Wieczorek, Stefan; Landwehrmeyer, G Bernhard; Roos, Raymund A C; de Yebenes, Justo Garcia; Dose, Matthias; Tabrizi, Sarah J; Craufurd, David; ; Arning, Larissa

PLoS currents. 2011;3: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.

Bibliographic metadata

Type of resource:

text

Content type:

Journal article

Publication type:

Review article

Author(s):

Collaborator(s):

Published date:

2011

Article title:

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

Journal title:

PLoS currents

Abbreviated journal title:

PLoS Curr

ISSN:

2157-3999

Place of publication:

United States

Volume:

Pagination:

RRN1247

Digital Object Identifier:

10.1371/currents.RRN1247

Pubmed Identifier:

21989477

Pii Identifier:

k/-/-/1qv33xxycbkl6/7

Access state:

Active

Institutional metadata

University researcher(s):

Stopford, Cheryl

Academic department(s):

Record metadata

Manchester eScholar ID:

uk-ac-man-scw:187937

Created by:

Stopford, Cheryl

Created:

20th February, 2013, 15:39:27

Last modified by:

Stopford, Cheryl

Last modified:

20th September, 2015, 12:55:30