Resequencing and clinical associations of the 9p21.3 region: a comprehensive investigation in the Framingham heart study.

ABSTRACT:

Background

9p21.3 is among the most strongly replicated regions for cardiovascular disease. There are few reports of sequencing the associated 9p21.3 interval. We set out to sequence the 9p21.3 region followed by a comprehensive study of genetic associations with clinical and subclinical cardiovascular disease and its risk factors, as well as with copy number variation and gene expression, in the Framingham Heart Study (FHS).

Methods and results

We sequenced 281 individuals (94 with myocardial infarction, 94 with high coronary artery calcium levels, and 93 control subjects free of elevated coronary artery calcium or myocardial infarction), followed by genotyping and association in >7000 additional FHS individuals. We assessed genetic associations with clinical and subclinica

SUBMITTER: Johnson AD 

PROVIDER: S-EPMC3686634 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature