PLoS currents · 2011
NMDA receptor gene variations as modifiers in Huntington disease: a replication study.
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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, REGISTRY Investigators of the European Huntington's Disease Network, Arning Larissa
Аннотация
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.