NMDA受体基因变异作为亨廷顿病的修饰因子：一项重复研究
NMDA receptor gene variations as modifiers in Huntington disease: a replication study.
作者信息
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
出版信息
PLoS Curr. 2011 Oct 4;3:RRN1247. doi: 10.1371/currents.RRN1247.
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.
摘要
除了致病性的CAG重复扩增外，还有几个候选修饰基因会影响亨廷顿舞蹈症（HD）的发病年龄（AO），这一点已经得到了描述。本研究的目的是在欧洲亨廷顿舞蹈症网络（EHDN）的“登记处”队列中，重复验证N-甲基-D-天冬氨酸受体亚型基因GRIN2A和GRIN2B的变异与发病年龄之间的关联。分析确实重复验证了在整个队列中GRIN2A rs2650427变异与发病年龄之间的关联。然而，当按发病年龄亚型对受试者进行分层时，我们发现有名义上显著的证据表明GRIN2A rs1969060变异和GRIN2B rs1806201变异之间存在关联。这些发现进一步表明，N-甲基-D-天冬氨酸受体亚型基因是包含与亨廷顿舞蹈症发病年龄相关变异的基因座。
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