Author
Listed:
- Tianxiao Huan
(The Framingham Heart Study
The Population Sciences Branch, National Heart, Lung, and Blood Institute)
- Jian Rong
(Boston University)
- Chunyu Liu
(The Framingham Heart Study
The Population Sciences Branch, National Heart, Lung, and Blood Institute)
- Xiaoling Zhang
(The Framingham Heart Study
Cardiovascular Epidemiology and Human Genomics Branch, National Heart, Lung and Blood Institute)
- Kahraman Tanriverdi
(University of Massachusetts Medical School)
- Roby Joehanes
(The Framingham Heart Study
The Population Sciences Branch, National Heart, Lung, and Blood Institute
Mathematical and Statistical Computing Laboratory, Center for Information Technology, National Institutes of Health
Harvard Medical School, Harvard University)
- Brian H. Chen
(The Framingham Heart Study
The Population Sciences Branch, National Heart, Lung, and Blood Institute)
- Joanne M. Murabito
(The Framingham Heart Study
Section of General Internal Medicine, Boston University School of Medicine)
- Chen Yao
(The Framingham Heart Study
The Population Sciences Branch, National Heart, Lung, and Blood Institute)
- Paul Courchesne
(The Framingham Heart Study
The Population Sciences Branch, National Heart, Lung, and Blood Institute)
- Peter J. Munson
(Mathematical and Statistical Computing Laboratory, Center for Information Technology, National Institutes of Health)
- Christopher J. O’Donnell
(The Framingham Heart Study
Cardiovascular Epidemiology and Human Genomics Branch, National Heart, Lung and Blood Institute)
- Nancy Cox
(University of Chicago)
- Andrew D. Johnson
(The Framingham Heart Study
Cardiovascular Epidemiology and Human Genomics Branch, National Heart, Lung and Blood Institute)
- Martin G. Larson
(The Framingham Heart Study
Boston University)
- Daniel Levy
(The Framingham Heart Study
The Population Sciences Branch, National Heart, Lung, and Blood Institute)
- Jane E. Freedman
(University of Massachusetts Medical School)
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.
Suggested Citation
Tianxiao Huan & Jian Rong & Chunyu Liu & Xiaoling Zhang & Kahraman Tanriverdi & Roby Joehanes & Brian H. Chen & Joanne M. Murabito & Chen Yao & Paul Courchesne & Peter J. Munson & Christopher J. O’Don, 2015.
"Genome-wide identification of microRNA expression quantitative trait loci,"
Nature Communications, Nature, vol. 6(1), pages 1-9, May.
Handle:
RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms7601
DOI: 10.1038/ncomms7601
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