Integrated genomic and prospective clinical studies show the importance of modular pleiotropy for disease susceptibility, diagnosis and treatment.

ABSTRACT:

Background

Translational research typically aims to identify and functionally validate individual, disease-specific genes. However, reaching this aim is complicated by the involvement of thousands of genes in common diseases, and that many of those genes are pleiotropic, that is, shared by several diseases.

Methods

We integrated genomic meta-analyses with prospective clinical studies to systematically investigate the pathogenic, diagnostic and therapeutic roles of pleiotropic genes. In a novel approach, we first used pathway analysis of all published genome-wide association studies (GWAS) to find a cell type common to many diseases.

Results

The analysis showed over-representation of the T helper cell differentiation pathway, which is expressed in T cells. This led us

SUBMITTER: Gustafsson M 

PROVIDER: S-EPMC4064311 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature