Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function.

ABSTRACT: In conducting genome-wide association studies (GWAS), analytical approaches leveraging biological information may further understanding of the pathophysiology of clinical traits. To discover novel associations with estimated glomerular filtration rate (eGFR), a measure of kidney function, we developed a strategy for integrating prior biological knowledge into the existing GWAS data for eGFR from the CKDGen Consortium. Our strategy focuses on single nucleotide polymorphism (SNPs) in genes that are connected by functional evidence, determined by literature mining and gene ontology (GO) hierarchies, to genes near previously validated eGFR associations. It then requires association thresholds consistent with multiple testing, and finally evaluates novel candidates by independent replication. A

SUBMITTER: Chasman DI 

PROVIDER: S-EPMC3607468 | biostudies-literature | 2012 Dec

REPOSITORIES: biostudies-literature