Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease.

ABSTRACT:

Rationale

Therapies that inhibit CETP (cholesteryl ester transfer protein) have failed to demonstrate a reduction in risk for coronary heart disease (CHD). Human DNA sequence variants that truncate the CETP gene may provide insight into the efficacy of CETP inhibition.

Objective

To test whether protein-truncating variants (PTVs) at the CETP gene were associated with plasma lipid levels and CHD.

Methods and results

We sequenced the exons of the CETP gene in 58 469 participants from 12 case-control studies (18 817 CHD cases, 39 652 CHD-free controls). We defined PTV as those that lead to a premature stop, disrupt canonical splice sites, or lead to insertions/deletions that shift frame. We also genotyped 1 Japanese-specific PTV in 27561 participants

SUBMITTER: Nomura A 

PROVIDER: S-EPMC5523940 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature