TMEM106B haplotypes have distinct gene expression patterns in aged brain.

ABSTRACT:

Background

Single nucleotide polymorphisms (SNPs) inherited as one of two common haplotypes at the transmembrane protein 106B (TMEM106B) locus are associated with the risk of multiple neurodegenerative diseases, including frontotemporal lobar degeneration with pathological inclusions of TDP-43. Among the associated variants, rs3173615 (encoding p.T185S) is the only coding variant; however, non-coding variants may also contribute to disease risk. It has been reported that the risk haplotype is associated with higher levels of TMEM106B and increased levels of TMEM106B cause cytotoxicity; however, the precise mechanism through which TMEM106B haplotypes contribute to neurodegeneration is unclear.

Methods

We utilized RNA sequencing data derived from temporal cortex (TCX) and cere

SUBMITTER: Ren Y 

PROVIDER: S-EPMC6029036 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature