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Cis-acting polymorphisms affect complex traits through modifications of microRNA regulation pathways.

PLoS ONE 7:e36694 (2012)
Publishers Version DOI PMC
Open Access Gold
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as soon as is submitted to ZB.
Genome-wide association studies (GWAS) have become an effective tool to map genes and regions contributing to multifactorial human diseases and traits. A comparably small number of variants identified by GWAS are known to have a direct effect on protein structure whereas the majority of variants is thought to exert their moderate influences on the phenotype through regulatory changes in mRNA expression. MicroRNAs (miRNAs) have been identified as powerful posttranscriptional regulators of mRNAs. Binding to their target sites, which are mostly located within the 3'-untranslated region (3'-UTR) of mRNA transcripts, they modulate mRNA expression and stability. Until today almost all human mRNA transcripts are known to harbor at least one miRNA target site with an average of over 20 miRNA target sites per transcript. Among 5,101 GWAS-identified sentinel single nucleotide polymorphisms (SNPs) that correspond to 18,884 SNPs in linkage disequilibrium (LD) with the sentinels (r(2) >= 0.8) we identified a significant overrepresentation of SNPs that affect the 3'-UTR of genes (OR = 2.33, 95% CI = 2.12-2.57, P
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Publication type Article: Journal article
Document type Scientific Article
Keywords PRIMARY BILIARY-CIRRHOSIS; GENOME-WIDE ASSOCIATION; MESSENGER-RNA POLYADENYLATION; LARGE GENE LISTS; HUMAN-DISEASE; DNA-REPAIR; HEPATOCELLULAR-CARCINOMA; INTEGRATIVE ANALYSIS; UNFINISHED BUSINESS; EXPRESSION PROFILES
Reviewing status