The ATF6-Met[67]Val substitution is associated with increased plasma cholesterol levels.

ABSTRACT:

Objective

Activating transcription factor 6 (ATF6) is a sensor of the endoplasmic reticulum stress response and regulates expression of several key lipogenic genes. We used a 2-stage design to investigate whether ATF6 polymorphisms are associated with lipids in subjects at increased risk for cardiovascular disease (CVD).

Methods and results

In stage 1, 13 tag-SNPs were tested for association in Dutch samples ascertained for familial combined hyperlipidemia (FCHL) or increased risk for CVD (CVR). In stage 2, we further investigated the SNP with the strongest association from stage 1, a Methionine/Valine substitution at amino-acid 67, in Finnish FCHL families and in subjects with CVR from METSIM, a Finnish population-based cohort. The combined analysis of both stages reached r

SUBMITTER: Meex SJ 

PROVIDER: S-EPMC2756089 | biostudies-literature | 2009 Sep

REPOSITORIES: biostudies-literature