Genome-wide association studies (GWAS) have identified tens of thousands of genetic variants (GVs) that are associated with human diseases. Surprisingly, over 88% of the GVs are located in the regions that do not code for a protein (Hindorff et al., PNAS 106:9362-9367, 2009). Many of them are suspected to play regulatory roles, either through transcription factors interacting with the promoter/enhancer regions of a gene, or through noncoding RNAs, such as microRNAs acting in the 3′UTR region of a gene.
In this issue, Gong et al. (Hum Mutat 33:254–263, 2012) systematically studied the GVs in microRNAs and their flanking regions. They developed a computational pipeline to predict the functional effects of these GVs on the interactions between microRNAs and the targets thereof. They further experimentally tested 11 microRNA-target pairs that are predicted to have altered functional effects, and validated eight of them. The result showed that their predictions are fairly reliable.
The database provided by this study, which focuses on GVs in microRNAs, complements recent databases on GVs in microRNA targets and transcription factor binding sites (Li et al., NAR 10.1093/nar/GKR1182) and on other functional predictions (Wang et al., Hum Mutat 32:19-24, 2011). These resources will help investigators to study the functional roles of a GV, not only for follow-up studies, but also for SNP selection before a genotyping experiment is performed (Zhang et al., Sci Rep 1:20, 2011).