Huan, TianxiaoRong, JianLiu, ChunyuZhang, XiaolingTanriverdi, KahramanJoehanes, RobyChen, Brian H.Murabito, Joanne M.Yao, ChenCourchesne, PaulMunson, Peter J.O’Donnell, Christopher J.Cox, NancyJohnson, Andrew D.Larson, Martin G.Levy, DanielFreedman, Jane E.2015-10-012015Huan, T., J. Rong, C. Liu, X. Zhang, K. Tanriverdi, R. Joehanes, B. H. Chen, et al. 2015. “Genome-wide Identification of microRNA Expression Quantitative Trait Loci.” Nature communications 6 (1): 6601. doi:10.1038/ncomms7601. http://dx.doi.org/10.1038/ncomms7601.2041-1723http://nrs.harvard.edu/urn-3:HUL.InstRepos:22856995Identification 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 5239 individuals, and identify 5269 cis-miR-eQTLs for 76 mature microRNAs. Forty-nine percent of cis-miR-eQTLs are located 300–500kb 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 SNPs. 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 (e.g., rs7115089, miR-125b-5p, and HDL 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.en-USJournal Article2015-10-0110.1038/ncomms7601