4.5 Article

The H1c haplotype at the MAPT locus is associated with Alzheimer's disease

期刊

HUMAN MOLECULAR GENETICS
卷 14, 期 16, 页码 2399-2404

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OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddi241

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  1. Intramural NIH HHS Funding Source: Medline
  2. NIA NIH HHS [AG05128, AG 05146, P50 AG16570, P50-AG08671] Funding Source: Medline
  3. NIMH NIH HHS [MH60451] Funding Source: Medline
  4. NINDS NIH HHS [NS39764] Funding Source: Medline

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Although it is clear that microtubule associated protein tau (MAPT) is involved in Alzheimer's disease (AD) pathology, it has not been clear whether it is involved genetically. We have recently examined the MAPT locus in progressive supranuclear palsy and found that a haplotype (H1c) on the background of the well-described H1 clade is associated with PSP. Here we report that the same haplotype is associated with the risk of AD in two autopsy confirmed series of cases with ages at death >65 years.

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