A genome-wide survey for SNPs altering microRNA seed sites identifies functional candidates in GWAS.

ABSTRACT:

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 significance 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).

Results

We identifie

SUBMITTER: Richardson K 

PROVIDER: S-EPMC3207998 | biostudies-literature | 2011 Oct

REPOSITORIES: biostudies-literature