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Arnold, M. ; Ellwanger, D.C. ; Hartsperger, M.L. ; Pfeufer, A. ; Stuempflen, V.

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

PLoS ONE 7:e36694 (2012)
Verlagsversion Volltext DOI PMC
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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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter PRIMARY BILIARY-CIRRHOSIS; GENOME-WIDE ASSOCIATION; MESSENGER-RNA POLYADENYLATION; LARGE GENE LISTS; HUMAN-DISEASE; DNA-REPAIR; HEPATOCELLULAR-CARCINOMA; INTEGRATIVE ANALYSIS; UNFINISHED BUSINESS; EXPRESSION PROFILES
Sprache englisch
Veröffentlichungsjahr 2012
HGF-Berichtsjahr 2012
ISSN (print) / ISBN 1932-6203
Zeitschrift PLoS ONE
Quellenangaben Band: 7, Heft: 5, Seiten: , Artikelnummer: e36694 Supplement: ,
Verlag Public Library of Science (PLoS)
Verlagsort Lawrence, Kan.
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Bioinformatics and Systems Biology (IBIS)
Institute of Human Genetics (IHG)
POF Topic(s) 30505 - New Technologies for Biomedical Discoveries
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Forschungsfeld(er) Enabling and Novel Technologies
Genetics and Epidemiology
PSP-Element(e) G-503700-001
G-500700-001
PubMed ID 22606281
DOI 10.1371/journal.pone.0036694
WOS ID WOS:000305338200038
Scopus ID 84861001708
Erfassungsdatum 2012-07-12
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