Fine mapping the <i>CETP</i> region reveals a common intronic insertion associated to HDL-C.

ABSTRACT:

Background

Individuals with exceptional longevity and their offspring have significantly larger high-density lipoprotein concentrations (HDL-C) particle sizes due to the increased homozygosity for the I405V variant in the cholesteryl ester transfer protein (CETP) gene. In this study, we investigate the association of CETP and HDL-C further to identify novel, independent CETP variants associated with HDL-C in humans.

Methods

We performed a meta-analysis of HDL-C within the CETP region using 59,432 individuals imputed with 1000 Genomes data. We performed replication in an independent sample of 47,866 individuals and validation was done by Sanger sequencing.

Results

The meta-analysis of HDL-C within the CETP region identified five indep

SUBMITTER: van Leeuwen EM 

PROVIDER: S-EPMC5514988 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature