A systematic approach to understand the functional consequences of non-protein coding risk regions

Cell Cycle. 2010 Jan 15;9(2):256-9. doi: 10.4161/cc.9.2.10419. Epub 2010 Jan 23.

Abstract

A primary goal of genetic association studies is to elucidate genes and novel biological mechanisms involved in disease. Recently, genome-wide association studies have identified many common genetic variants that are significantly associated with complex diseases such as cancer. In contrast to Mendelian disorders, a sizable fraction of the variants lies outside known protein-coding regions; therefore, understanding their biological consequences presents a major challenge in human genetics. Here we describe an integrated framework to allow non-protein coding loci to be annotated with respect to regulatory functions. This will facilitate identification of target genes as well as prioritize variants for functional testing.

Publication types

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

MeSH terms

  • 3' Untranslated Regions
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study*
  • Humans
  • Neoplasms / genetics*
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Risk Factors

Substances

  • 3' Untranslated Regions