TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers.

ABSTRACT:

Objectives

To determine whether TMEM106B single nucleotide polymorphisms (SNPs) are associated with frontotemporal lobar degeneration (FTLD) in patients with and without mutations in progranulin (GRN) and to determine whether TMEM106B modulates GRN expression.

Methods

We performed a case-control study of 3 SNPs in TMEM106B in 482 patients with clinical and 80 patients with pathologic FTLD-TAR DNA-binding protein 43 without GRN mutations, 78 patients with FTLD with GRN mutations, and 822 controls. Association analysis of TMEM106B with GRN plasma levels was performed in 1,013 controls and TMEM106B and GRN mRNA expression levels were correlated in peripheral blood samples from 33 patients with FTLD and 150 controls.

Results

In our complete FTLD patient cohort, nominal si

SUBMITTER: Finch N 

PROVIDER: S-EPMC3034409 | biostudies-literature | 2011 Feb

REPOSITORIES: biostudies-literature