Thursday, September 13, 2012
Figure 1. Rethinking disease markers. Maurano et al. have uncovered evidence from genomewide association
studies that the majority of noncoding DNA regions implicated in disease may
exert their effects on distant genes, not adjacent ones as previously thought.
(I) SNPs in noncoding regions were
thought to affect the expression of the nearest gene (Gene A), which was
imputed to be involved in disease.
(II) Maurano et al. used data from the Encyclopedia of DNA Elements (ENCODE)
consortium survey of genomic interactions to study the relationship between
gene expression and disease-linked SNPs. The team concluded that noncoding SNPs
typically affect the expression of distant genes (Gene B), not the nearest
ones. The findings shift the focus of disease gene validation away from nearby
genes toward distant genes.