title: SNPs in microRNA target sites and their potential role in human disease.
abstract: In the post-genomic era, the goal of personalized medicine is to determine the correlation between genotype and phenotype. Developing high-throughput genotyping technologies such as genome-wide association studies (GWAS) and the 1000 Genomes Project (http://www.internationalgenome.org/about/#1000G_PROJECT) has dramatically enhanced our ability to map where changes in the genome occur on a population level by identifying millions of single nucleotide polymorphisms (SNPs). Polymorphisms, particularly those within the coding regions of proteins and at splice junctions, have received the most attention, but it is also now clear that polymorphisms in the non-coding regions are important. In these non-coding regions, the enhancer and promoter regions have received the most attention, whereas the 3'-UTR regions have until recently been overlooked. In this review, we examine how SNPs affect microRNA-binding sites in these regions, and how mRNA stability changes can lead to disease pathogenesis.
authors.affiliation: Department of Biology and Pharmaceutical Botany, Medical University of Gdansk, Gdansk, Poland.
authors.forename: Adrianna
authors.initials: A
authors.lastname: Moszyńska
authors.affiliation: Department of Biology and Pharmaceutical Botany, Medical University of Gdansk, Gdansk, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Gebert
authors.affiliation: Department of Cell, Developmental and Integrative Biology, University of Alabama at Birmingham, Birmingham, AL, USA.
authors.forename: James F
authors.initials: JF
authors.lastname: Collawn
authors.affiliation: Department of Biology and Pharmaceutical Botany, Medical University of Gdansk, Gdansk, Poland rafalbar@gumed.edu.pl.
authors.forename: Rafał
authors.identifier: 0000-0002-2864-6757
authors.initials: R
authors.lastname: Bartoszewski
mesh_terms: D000818:Animals; D001665:Binding Sites; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D035683:MicroRNAs / Q000737:chemistry / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D034622:RNA Interference; D012333:RNA, Messenger / Q000737:chemistry / Q000235:genetics
chemical_list: D035683:MicroRNAs; D012333:RNA, Messenger
keywords: microRNA; poly-miRTS; single nucleotide polymorphisms