A GABBR2 gene variant modifies pathophysiology in Huntington’s disease
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- 作者：April L. Philpotta ; Paul B. Fitzgeraldb ; Neil W. Baileyb ; Andrew Churchyardc ; Nellie Georgiou-Karistianisa ; nellie.georgiou-karistianis@monash.edu" class="auth_mail" title="E-mail the corresponding author ; Tarrant D.R. Cumminsa
- 关键词：Transcranial magnetic stimulation ; Single-nucleotide polymorphism ; GABA ; Dopamine ; Cortical excitability ; Age at onset
- 刊名：Neuroscience Letters
- 出版年：2016
- 出版时间：4 May 2016
- 年：2016
- 卷：620
- 期：Complete
- 页码：8-13
- 全文大小：732 K
文摘
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Genetic modifiers of pathophysiology in HD have not been previously investigated.
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SNP mapping of GABA and dopamine receptor genes was performed in 29HD participants.
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A putatively functional GABBR2 variant was associated with cortical excitability.
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GABBR2, GABRA2 and DRD2 SNPs were associated with pathophysiology and age at onset.
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Uncovering genetic modifiers helps to identify novel targets for clinical trials.