Haplotype-specific MAPT exon 3 expression regulated by common intronic polymorphisms associated with Parkinsonian disorders
作者: Mang Ching LaiAnne-Laure BechyFranziska DenkEmma CollinsMaria GavrilioukJudith B. ZauggBrent J. RyanRichard Wade-MartinsTara M. Caffrey
作者单位: 1University of Oxford
2European Molecular Biology Laboratory
刊名: Molecular Neurodegeneration, 2017, Vol.12 (1)
来源数据库: Springer Journal
DOI: 10.1186/s13024-017-0224-6
关键词: TauProgressive supranuclear palsyAlzheimer’s diseaseMAPTCorticobasal degenerationParkinson’s disease
英文摘要: Genome wide association studies have identified microtubule associated protein tau ( MAPT ) H1 haplotype single nucleotide polymorphisms (SNPs) as leading common risk variants for Parkinson’s disease, progressive supranuclear palsy and corticobasal degeneration. The MAPT risk variants fall within a large 1.8 Mb region of high linkage disequilibrium, making it difficult to discern the functionally important risk variants. Here, we leverage the strong haplotype-specific expression of MAPT exon 3 to investigate the functionality of SNPs that fall within this H1 haplotype region of linkage disequilibrium.
原始语种摘要: Genome wide association studies have identified microtubule associated protein tau ( MAPT ) H1 haplotype single nucleotide polymorphisms (SNPs) as leading common risk variants for Parkinson’s disease, progressive supranuclear palsy and corticobasal degeneration. The MAPT risk variants fall within a large 1.8 Mb region of high linkage disequilibrium, making it difficult to discern the functionally important risk variants. Here, we leverage the strong haplotype-specific expression of MAPT exon 3 to investigate the functionality of SNPs that fall within this H1 haplotype region of linkage disequilibrium.
全文获取路径: Springer  (合作)
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来源刊物:
影响因子:4.007 (2012)

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关键词翻译
关键词翻译
  • expression 表示
  • nucleotide 核苷酸
  • haplotype 单倍体型
  • common 普通
  • region 地域
  • specific 
  • supranuclear 核上的
  • associated 相关的
  • palsy 麻痹
  • investigate