Common miR-590 Variant rs6971711 Present Only in African Americans Reduces miR-590 Biogenesis
| Autor: | Celia P. Corona-Villalobos, Suresh K. Kandasamy, Yufan Guan, D. Tripodi, Zhaoxia Huo, Scot J. Matkovich, Garry R. Cutting, Ryuya Fukunaga, Xiaoping Lin, Neal D. Epstein, Junaid Afzal, Theodore P. Abraham, Susan E. Liao, Steven J. Steinberg, M. Roselle Abraham, Blaid Mbiyangandu |
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| Rok vydání: | 2015 |
| Předmět: |
0301 basic medicine
Molecular biology Cardiomyopathy lcsh:Medicine Biochemistry Muscle hypertrophy Polymorphism (computer science) Fibrosis Animal Cells Medicine and Health Sciences Ethnicities Myocytes Cardiac lcsh:Science African Americans education.field_of_study Multidisciplinary Stem Cells Hypertrophic cardiomyopathy Population groupings Enzymes Nucleic acids Cellular Types Anatomy Oxidoreductases Luciferase Research Article medicine.medical_specialty Population Induced Pluripotent Stem Cells Muscle Tissue Single-nucleotide polymorphism Biology DNA construction Transfection Polymorphism Single Nucleotide 03 medical and health sciences Internal medicine medicine Genetics SNP Humans education Non-coding RNA Muscle Cells Biology and life sciences lcsh:R Proteins Cell Biology Cardiomyopathy Hypertrophic medicine.disease Gene regulation Black or African American Research and analysis methods MicroRNAs 030104 developmental biology Endocrinology HEK293 Cells Molecular biology techniques Biological Tissue Case-Control Studies Plasmid Construction Enzymology RNA lcsh:Q Gene expression People and places Developmental Biology |
| Zdroj: | PLoS ONE PLoS ONE, Vol 11, Iss 5, p e0156065 (2016) |
| ISSN: | 1932-6203 |
| Popis: | MicroRNAs (miRNAs) are recognized as important regulators of cardiac development, hypertrophy and fibrosis. Recent studies have demonstrated that genetic variations which cause alterations in miRNA:target interactions can lead to disease. We hypothesized that genetic variations in miRNAs that regulate cardiac hypertrophy/fibrosis might be involved in generation of the cardiac phenotype in patients diagnosed with hypertrophic cardiomyopathy (HCM). To investigate this question, we Sanger sequenced 18 miRNA genes previously implicated in myocyte hypertrophy/fibrosis and apoptosis, using genomic DNA isolated from the leukocytes of 199 HCM patients. We identified a single nucleotide polymorphism (rs6971711, C57T SNP) at the 17th position of mature miR-590-3p (= 57th position of pre-miR-590) that is common in individuals of African ancestry. SNP frequency was higher in African American HCM patients (n = 55) than ethnically-matched controls (n = 100), but the difference was not statistically significant (8.2% vs. 6.5%; p = 0.5). Using a cell culture system, we discovered that presence of this SNP resulted in markedly lower levels of mature miR-590-5p (39 ± 16%, p |
| Databáze: | OpenAIRE |
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