Disease risk factors identified through shared genetic architecture and electronic medical records.

ABSTRACT: Genome-wide association studies have identified genetic variants for thousands of diseases and traits. We evaluated the relationships between specific risk factors (for example, blood cholesterol level) and diseases on the basis of their shared genetic architecture in a comprehensive human disease-single-nucleotide polymorphism association database (VARIMED), analyzing the findings from 8962 published association studies. Similarity between traits and diseases was statistically evaluated on the basis of their association with shared gene variants. We identified 120 disease-trait pairs that were statistically similar, and of these, we tested and validated five previously unknown disease-trait associations by searching electronic medical records (EMRs) from three independent medical centers

SUBMITTER: Li L 

PROVIDER: S-EPMC4323098 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature