Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease.

ABSTRACT:

Background

Apolipoprotein E (APOE) is the most statistically significant genetic risk factor for late-onset Alzheimer disease (LOAD). The linkage disequilibrium pattern around the APOE gene has made it difficult to determine whether all the association signal is derived from APOE or whether there is an independent signal from a nearby gene.

Objective

To attempt to replicate a recently reported association of APOE 3-TOMM40 haplotypes with risk and age at onset.

Design

We used standard techniques to genotype several polymorphisms in the APOE-TOMM40 region in a large case-control series, in a series with cerebrospinal fluid biomarker data, and in brain tissue.

Setting

Alzheimer's Disease Research Center.

Participants

Research volunteers who were cognitively

SUBMITTER: Cruchaga C 

PROVIDER: S-EPMC3204798 | biostudies-literature | 2011 Aug

REPOSITORIES: biostudies-literature