ArticleGenome medicine2012
A map of human microRNA variation uncovers unexpectedly high levels of variability.
Article in Genome medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Ethnicity modifies the association between microRNA single nucleotide polymorphisms and pediatric acute lymphoblastic leukemia risk: a meta-analysis.Biomarkers in medicine · 2025Pooled it
- Signatures of genetic variation in human microRNAs point to processes of positive selection and population-specific disease risks.Human genetics · 2022Article
- Using mechanistic models for the clinical interpretation of complex genomic variation.Scientific reports · 2019Article
- Framework for microRNA variant annotation and prioritization using human population and disease datasets.Human mutation · 2019Article
- Genome-wide analysis of NGS data to compile cancer-specific panels of miRNA biomarkers.PloS one · 2018Article
- Applications of the 1000 Genomes Project resources.Briefings in functional genomics · 2017Article
- Association Between microRNA-125a rs12976445 C>T Polymorphism and 18F-Fluorodeoxyglucose (18FDG) Uptake: Clinical and Metabolic Response in Patients with Non-Small Cell Lung Cancer.Medical science monitor : international medical journal of experimental and clinical research · 2016Article
- Integrated gene set analysis for microRNA studies.Bioinformatics (Oxford, England) · 2016Article
- 267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.Molecular biology and evolution · 2016Article
- A selective screening platform reveals unique global expression patterns of microRNAs in a cohort of human soft-tissue sarcomas.Laboratory investigation; a journal of technical methods and pathology · 2016Article
- The phylogenetic utility and functional constraint of microRNA flanking sequences.Proceedings. Biological sciences · 2015Article
- Contributions from emerging transcriptomics technologies and computational strategies for drug discovery.Investigational new drugs · 2014Review
- The role of the interactome in the maintenance of deleterious variability in human populations.Molecular systems biology · 2014Article
- A functional variant of pre-miRNA-196a2 confers risk for Behcet's disease but not for Vogt-Koyanagi-Harada syndrome or AAU in ankylosing spondylitis.Human genetics · 2013Article
- RNA sequencing reveals small RNAs differentially expressed between incipient Japanese threespine sticklebacks.BMC genomics · 2013Article
- Unexpected findings of variability in microRNAs suggest roles in human genetics.Genome medicine · 2012Article
Corrections and comments
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Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMicroRNAs (miRNAs) are key components of the gene regulatory network in many species. During the past few years, these regulatory elements have been shown to be involved in an increasing number and range of diseases. Consequently, the compilation of a comprehensive map of natural variability in a healthy population seems an obvious requirement for future research on miRNA-related pathologies.
methodsData on 14 populations from the 1000 Genomes Project were analyzed, along with new data extracted from 60 exomes of healthy individuals from a population from southern Spain, sequenced in the context of the Medical Genome Project, to derive an accurate map of miRNA variability.
resultsDespite the common belief that miRNAs are highly conserved elements, analysis of the sequences of the 1,152 individuals indicated that the observed level of variability is double what was expected. A total of 527 variants were found. Among these, 45 variants affected the recognition region of the corresponding miRNA and were found in 43 different miRNAs, 26 of which are known to be involved in 57 diseases. Different parts of the mature structure of the miRNA were affected to different degrees by variants, which suggests the existence of a selective pressure related to the relative functional impact of the change. Moreover, 41 variants showed a significant deviation from the Hardy-Weinberg equilibrium, which supports the existence of a selective process against some alleles. The average number of variants per individual in miRNAs was 28.
conclusionsDespite an expectation that miRNAs would be highly conserved genomic elements, our study reports a level of variability comparable to that observed for coding genes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.