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Nat Commun. 2015 Mar 20;6:6601. doi: 10.1038/ncomms7601.

Genome-wide identification of microRNA expression quantitative trait loci.

Author information

1
1] The Framingham Heart Study, Framingham, Massachusetts 01702, USA [2] The Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, Bethesda, Maryland 20824, USA.
2
Department of Mathematics and Statistics, Boston University, Boston, Massachusetts 02118, USA.
3
1] The Framingham Heart Study, Framingham, Massachusetts 01702, USA [2] Cardiovascular Epidemiology and Human Genomics Branch, Division of Intramural Research, National Heart, Lung and Blood Institute, Bethesda, Maryland 20824, USA.
4
Department of Medicine, University of Massachusetts Medical School, Worcester, Massachusetts 01655, USA.
5
1] The Framingham Heart Study, Framingham, Massachusetts 01702, USA [2] The Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, Bethesda, Maryland 20824, USA [3] Mathematical and Statistical Computing Laboratory, Center for Information Technology, National Institutes of Health, Bethesda, Maryland 20824, USA [4] Harvard Medical School, Harvard University, Boston, Massachusetts 02115, USA [5] Hebrew SeniorLife, Boston, Massachusetts 02131, USA.
6
1] The Framingham Heart Study, Framingham, Massachusetts 01702, USA [2] Department of Medicine, Section of General Internal Medicine, Boston University School of Medicine, Boston, Massachusetts 02118, USA.
7
Mathematical and Statistical Computing Laboratory, Center for Information Technology, National Institutes of Health, Bethesda, Maryland 20824, USA.
8
Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.
9
1] The Framingham Heart Study, Framingham, Massachusetts 01702, USA [2] Department of Mathematics and Statistics, Boston University, Boston, Massachusetts 02118, USA.

Abstract

Identification of microRNA expression quantitative trait loci (miR-eQTL) can yield insights into regulatory mechanisms of microRNA transcription, and can help elucidate the role of microRNA as mediators of complex traits. Here we present a miR-eQTL mapping study of whole blood from 5,239 individuals, and identify 5,269 cis-miR-eQTLs for 76 mature microRNAs. Forty-nine per cent of cis-miR-eQTLs are located 300-500 kb upstream of their associated intergenic microRNAs, suggesting that distal regulatory elements may affect the interindividual variability in microRNA expression levels. We find that cis-miR-eQTLs are highly enriched for cis-mRNA-eQTLs and regulatory single nucleotide polymorphisms. Among 243 cis-miR-eQTLs that were reported to be associated with complex traits in prior genome-wide association studies, many cis-miR-eQTLs miRNAs display differential expression in relation to the corresponding trait (for example, rs7115089, miR-125b-5p and high-density lipoprotein cholesterol). Our study provides a roadmap for understanding the genetic basis of miRNA expression, and sheds light on miRNA involvement in a variety of complex traits.

PMID:
25791433
PMCID:
PMC4369777
DOI:
10.1038/ncomms7601
[Indexed for MEDLINE]
Free PMC Article
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