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A Dementia-Associated Risk Variant near TMEM106B Alters Chromatin Architecture and Gene Expression.


ABSTRACT: Neurodegenerative diseases pose an extraordinary threat to the world's aging population, yet no disease-modifying therapies are available. Although genome-wide association studies (GWASs) have identified hundreds of risk loci for neurodegeneration, the mechanisms by which these loci influence disease risk are largely unknown. Here, we investigated the association between common genetic variants at the 7p21 locus and risk of the neurodegenerative disease frontotemporal lobar degeneration. We showed that variants associated with disease risk correlate with increased expression of the 7p21 gene TMEM106B and no other genes; co-localization analyses implicated a common causal variant underlying both association with disease and association with TMEM106B expression in lymphoblastoid cell lines a

SUBMITTER: Gallagher MD 

PROVIDER: S-EPMC5673619 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature