From single nucleotide polymorphism to transcriptional mechanism: a model for FRMD3 in diabetic nephropathy.

ABSTRACT: Genome-wide association studies have proven to be highly effective at defining relationships between single nucleotide polymorphisms (SNPs) and clinical phenotypes in complex diseases. Establishing a mechanistic link between a noncoding SNP and the clinical outcome is a significant hurdle in translating associations into biological insight. We demonstrate an approach to assess the functional context of a diabetic nephropathy (DN)-associated SNP located in the promoter region of the gene FRMD3. The approach integrates pathway analyses with transcriptional regulatory pattern-based promoter modeling and allows the identification of a transcriptional framework affected by the DN-associated SNP in the FRMD3 promoter. This framework provides a testable hypothesis for mechanisms of genomic variat

SUBMITTER: Martini S 

PROVIDER: S-EPMC3712052 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature