rs11022147 - TOLLIP-DT - LINC02689

Magnitude 2.2 · 1 study on file

Reported associations

• Susceptibility to neurofibrillary tangles: role of the PTPRD locus and limited pleiotropy with other neuropathologies - Unknown journal (n.d.) · Unknown authors · PubMed 28322283

  ABSTRACT: Tauopathies, including Alzheimer's disease (AD) and other neurodegenerative conditions, are defined by a pathological hallmark: neurofibrillary tangles (NFT). NFT accumulation is thought to be closely linked to cognitive decline in AD. Here, we perform a genome-wide association study for NFT pathologic burden and report the association of the PTPRD locus (rs560380, p=3.8×10−8) in 909 prospective autopsies. The association is replicated in an independent dataset of 369 autopsies. The association of PTPRD with NFT is not dependent on the accumulation of amyloid pathology. In contrast, we find that the ZCWPW1 AD susceptibility variant influences NFT accumulation and that this effect is mediated by an accumulation of amyloid β plaques. We also performed complementary analyses t

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