Open Access Highly Accessed Research article

The regulatory effect of miRNAs is a heritable genetic trait in humans

Paul Geeleher1, Stephanie R Huang2, Eric R Gamazon3, Aaron Golden4 and Cathal Seoighe15*

Author Affiliations

1 Department of Mathematics, Statistics and Applied Mathematics, National University of Ireland, Galway, Ireland

2 Section of Hematology/Oncology, Department of Medicine, University of Chicago, Chicago, USA

3 Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, USA

4 Department of Genetics, Albert Einstein College of Medicine, 1300 Morris Park Ave, Bronx, NY 10461, USA

5 Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Cape Town 7925, South Africa

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BMC Genomics 2012, 13:383  doi:10.1186/1471-2164-13-383

Published: 10 August 2012

Additional files

Additional file 1:

Tables of regression p-values and slopes, for heritability of individual miRNA RE-scores from TargetScan and PicTar algorithms.

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Additional file 2:

Figure S1. Heritability for individual RE-scores. Histograms of p-values for tests of heritability of individual RE-scores for (a) TargetScan and (b) PicTar algorithms. Figure S2: P-Values for genome-wide tests of association. Histograms (a & b) of p-values for tests of association between all SNP markers and mean RE-score and Manhattan plots (c & d) of p-values in the CEU and YRI respectively. Figure S3: Histograms of p-values for miRNA biogenesis pathway SNPs. Histograms of p-values for the tests of association between SNP markers mapped to the miRNA biogenesis pathway and mean RE-score in the (a) CEU and (b) YRI populations. Figure S4: Many mirtron target genes are also miRNA targets Relationship between the strength of association with rs17409624 for mirtrons and the average number of conventional miRNAs that also target the mirtron’s target genes. This figure is based on TargetScan predictions for conserved miRNA families on HapMap CEU data. R2 = 0.65, p = 5.1 × 10−4 Figure S5: DROSHA promoter region Chromatin state of DROSHA region for nine cell lines from the ENCODE project. Active promoter is shown in bright red. The haplotype block for rs17409624 is shown in black and clearly overlaps the promoter region.

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Additional file 3:

Tables of top 10 SNPs from the genome-wide screen for association of mean RE-score and SNP genotypes, in the CEU and in the YRI.

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Additional file 4:

Table of p-values for association of Drosha coding SNPs and mean RE-score, based on the 1,000 genomes CEU data. Only SNPs with more than 1 copy of the minor allele in the 45 samples available are included. If a SNP was genotyped by the HapMap project, that p-value is also included.

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Additional file 5:

Tables of Spearman correlations and p-values for correlations between individual miRNAs and their associated RE-scores in the CEU and YRI.

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Additional file 6:

Tables of P-values and False discovery rates (calculated using the qvalue package in R) for association between the expression of individual miRNAs and rs17409624. MiRNAs with p < 0.05 are shown.

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Additional file 7:

P-values from linear models of individual RE-score dependent on (subtracted) mean RE-score and miRNA expression.

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