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

Diabetes. 2013 Jul;62(7):2605-12. doi: 10.2337/db12-1416. Epub 2013 Feb 22.

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 variation and transcriptional regulation in the context of DN. Our model proposes a possible transcriptional link through which the polymorphism in the FRMD3 promoter could influence transcriptional regulation within the bone morphogenetic protein (BMP)-signaling pathway. These findings provide the rationale to interrogate the biological link between FRMD3 and the BMP pathway and serve as an example of functional genomics-based hypothesis generation.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Diabetic Nephropathies / genetics*
  • Diabetic Nephropathies / metabolism
  • Diabetic Nephropathies / pathology
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Kidney / metabolism
  • Kidney / pathology
  • Models, Genetic*
  • Polymorphism, Single Nucleotide*
  • Promoter Regions, Genetic
  • Transcription, Genetic
  • Tumor Suppressor Proteins / genetics*
  • Tumor Suppressor Proteins / metabolism

Substances

  • FRMD3 protein, human
  • Tumor Suppressor Proteins