Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels.

ABSTRACT:

Objective

To test whether rs1990622 (TMEM106B) is associated with age at onset (AAO) in granulin (GRN) mutation carriers and with plasma GRN levels in mutation carriers and healthy, elderly individuals. Rs1990622 (TMEM106B) was identified as a risk factor for frontotemporal lobar degeneration with TAR DNA-binding protein inclusions (FTLD-TDP) in a recent genome-wide association.

Design

Rs1990622 was genotyped in GRN mutation carriers and tested for association with AAO using the Kaplan-Meier method and a Cox proportional hazards model.

Setting

Alzheimer's Disease Research Center. Subjects  We analyzed 50 affected and unaffected GRN mutation carriers from 4 previously reported FTLD-TDP families (HDDD1, FD1, HDDD2, and the Karolinska family). The GRN plasma levels were

SUBMITTER: Cruchaga C 

PROVIDER: S-EPMC3090529 | biostudies-literature | 2011 May

REPOSITORIES: biostudies-literature