Neurofibrillary tau pathology modulated by genetic variation of alpha-synuclein.

Peuralinna, Terhi; Oinas, Minna; Polvikoski, Tuomo; Paetau, Anders; Sulkava, Raimo; Niinistö, Leena; Kalimo, Hannu; Hernandez, Dena et al. · Ann Neurol · 2008

case_control · Level III

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Abstract

We analyzed whether genetic variation of alpha-synuclein modulates the extent of neuropathological changes in a population-based autopsied sample of 272 elderly Finns. None of the 11 markers was associated with the extent of neocortical beta-amyloid pathology. The intron 4 marker rs2572324 was associated with the extent of neurofibrillary pathology (p = 0.0006, permuted p = 0.004; Braak stages IV-VI vs 0-II). The same variant also showed a trend for association with neocortical Lewy-related pathology. These results suggest for the first time that variation of alpha-synuclein modulates neurofibrillary tau pathology and support the recent observations of an interaction of alpha-synuclein and tau in neurodegeneration.

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