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NMDA receptor gene variations as modifiers in Huntington disease

Standard

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; REGISTRY Investigators of the European Huntington’s Disease Network.

in: PLoS currents, Jahrgang 3, 04.10.2011, S. RRN1247.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Saft, C, Epplen, JT, Wieczorek, S, Landwehrmeyer, GB, Roos, RAC, de Yebenes, JG, Dose, M, Tabrizi, SJ, Craufurd, D, Arning, L & REGISTRY Investigators of the European Huntington’s Disease Network 2011, 'NMDA receptor gene variations as modifiers in Huntington disease: a replication study', PLoS currents, Jg. 3, S. RRN1247. https://doi.org/10.1371/currents.RRN1247

APA

Saft, C., Epplen, J. T., Wieczorek, S., Landwehrmeyer, G. B., Roos, R. A. C., de Yebenes, J. G., Dose, M., Tabrizi, S. J., Craufurd, D., Arning, L., & REGISTRY Investigators of the European Huntington’s Disease Network (2011). NMDA receptor gene variations as modifiers in Huntington disease: a replication study. PLoS currents, 3, RRN1247. https://doi.org/10.1371/currents.RRN1247

Vancouver

Saft C, Epplen JT, Wieczorek S, Landwehrmeyer GB, Roos RAC, de Yebenes JG et al. NMDA receptor gene variations as modifiers in Huntington disease: a replication study. PLoS currents. 2011 Okt 4;3:RRN1247. https://doi.org/10.1371/currents.RRN1247

Bibtex

@article{e4039d244bee48d3a59ce8b7bade9bcb,
title = "NMDA receptor gene variations as modifiers in Huntington disease: a replication study",
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.",
keywords = "Journal Article",
author = "Carsten Saft and Epplen, {J{\"o}rg T} and Stefan Wieczorek and Landwehrmeyer, {G Bernhard} and Roos, {Raymund A C} and {de Yebenes}, {Justo Garcia} and Matthias Dose and Tabrizi, {Sarah J} and David Craufurd and Larissa Arning and {REGISTRY Investigators of the European Huntington{\textquoteright}s Disease Network}",
year = "2011",
month = oct,
day = "4",
doi = "10.1371/currents.RRN1247",
language = "English",
volume = "3",
pages = "RRN1247",
journal = "PLoS currents",
issn = "2157-3999",
publisher = "Public Library of Science",

}

RIS

TY - JOUR

T1 - NMDA receptor gene variations as modifiers in Huntington disease

T2 - a replication study

AU - Saft, Carsten

AU - Epplen, Jörg T

AU - Wieczorek, Stefan

AU - Landwehrmeyer, G Bernhard

AU - Roos, Raymund A C

AU - de Yebenes, Justo Garcia

AU - Dose, Matthias

AU - Tabrizi, Sarah J

AU - Craufurd, David

AU - Arning, Larissa

AU - REGISTRY Investigators of the European Huntington’s Disease Network

PY - 2011/10/4

Y1 - 2011/10/4

N2 - 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.

AB - 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.

KW - Journal Article

U2 - 10.1371/currents.RRN1247

DO - 10.1371/currents.RRN1247

M3 - SCORING: Journal article

C2 - 21989477

VL - 3

SP - RRN1247

JO - PLoS currents

JF - PLoS currents

SN - 2157-3999

ER -