ArticleBMC genomics2011
A genome-wide survey for SNPs altering microRNA seed sites identifies functional candidates in GWAS.
Article in BMC genomics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 94 citations in OpenAlex.
- Gain-of-function lipoprotein lipase variant rs13702 modulates lipid traits through disruption of a microRNA-410 seed site.American journal of human genetics · 2013Pooled it
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- An in silico approach to identify and prioritize miRNAs target sites polymorphisms in colorectal cancer and obesity.Cancer medicine · 2020Article
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- regQTLs: Single nucleotide polymorphisms that modulate microRNA regulation of gene expression in tumors.PLoS genetics · 2018Article
- Exercise Training-Induced Changes in MicroRNAs: Beneficial Regulatory Effects in Hypertension, Type 2 Diabetes, and Obesity.International journal of molecular sciences · 2018Review
- Genetic variants in mRNA untranslated regions.Wiley interdisciplinary reviews. RNA · 2018Review
- The Multifaceted Interface Between Cytokines and microRNAs: An Ancient Mechanism to Regulate the Good and the Bad of Inflammation.Frontiers in immunology · 2018Review
- Compartmentalization of functions and predicted miRNA regulation among contiguous regions of the nematode intestine.RNA biology · 2017Article
- Genome-scale identification of microRNA-related SNPs associated with risk of head and neck squamous cell carcinoma.Carcinogenesis · 2017Article
- Applications of the 1000 Genomes Project resources.Briefings in functional genomics · 2017Article
- Polymorphism in miR-31 and miR-584 binding site in the angiotensinogen gene differentially influences body fat distribution in both sexes.Genes & nutrition · 2015Article
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- Diminished skeletal muscle microRNA expression with aging is associated with attenuated muscle plasticity and inhibition of IGF-1 signaling.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2014Article
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundGene variants within regulatory regions are thought to be major contributors of the variation of complex traits/diseases. Genome wide association studies (GWAS), have identified scores of genetic variants that appear to contribute to human disease risk. However, most of these variants do not appear to be functional. Thus, the significance of the association may be brought up by still unknown mechanisms or by linkage disequilibrium (LD) with functional polymorphisms. In the present study, focused on functional variants related with the binding of microRNAs (miR), we utilized SNP data, including newly released 1000 Genomes Project data to perform a genome-wide scan of SNPs that abrogate or create miR recognition element (MRE) seed sites (MRESS).
resultsWe identified 2723 SNPs disrupting, and 22295 SNPs creating MRESSs. We estimated the percent of SNPs falling within both validated (5%) and predicted conserved MRESSs (3%). We determined 87 of these MRESS SNPs were listed in GWAS association studies, or in strong LD with a GWAS SNP, and may represent the functional variants of identified GWAS SNPs. Furthermore, 39 of these have evidence of co-expression of target mRNA and the predicted miR. We also gathered previously published eQTL data supporting a functional role for four of these SNPs shown to associate with disease phenotypes. Comparison of FST statistics (a measure of population subdivision) for predicted MRESS SNPs against non MRESS SNPs revealed a significantly higher (P = 0.0004) degree of subdivision among MRESS SNPs, suggesting a role for these SNPs in environmentally driven selection.
conclusionsWe have demonstrated the potential of publicly available resources to identify high priority candidate SNPs for functional studies and for disease risk prediction.
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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.