Background: Gene variants within regulatory regions are thought to be
major contributors of the variation of complex traits/diseases. Genome wide
association studies (GWAS), have identified scores of genetic variants that appear to
contribute to human disease risk. However, most of these variants do not appear to be
functional. Thus, the ... read moresignificance of the association may be brought up by still
unknown mechanisms or by linkage disequilibrium (LD) with functional polymorphisms.
In the present study, focused on functional variants related with the binding of
microRNAs (miR), we utilized SNP data, including newly released 1000 Genomes Project
data to perform a genome-wide scan of SNPs that abrogate or create miR recognition
element (MRE) seed sites (MRESS).
Richardson, Kris, Chao-Qiang Lai, Laurence D. Parnell, Yu-Chi
Lee, and Jose M. Ordovas. "A genome-wide survey for SNPs altering microRNA seed sites
identifies functional candidates in GWAS." BMC Genomics 12, no. 1 (12, 2011):