Common miR-590 variant rs6971711 present only in African Americans reduces miR-590 biogenesis

Xiaoping Lin, Steven Steinberg, Suresh K. Kandasamy, Junaid Afzal, Blaid Mbiyangandu, Susan E. Liao, Yufan Guan, Celia Corona Villalobos, Scot J. Matkovich, Neal Epstein, Dotti Tripodi, Zhaoxia Huo, Garry R Cutting, Theodore P. Abraham, Ryuya Fukunaga, M. Roselle Abraham

Research output: Contribution to journalArticle

Abstract

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 premiR-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

Original languageEnglish (US)
Article numbere0156065
JournalPLoS One
Volume11
Issue number5
DOIs
StatePublished - May 1 2016

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African Americans
MicroRNAs
microRNA
Single Nucleotide Polymorphism
Hypertrophic Cardiomyopathy
cardiomyopathy
fibrosis
hypertrophy
Fibrosis
Cardiomegaly
genetic variation
Polymorphism
Cell culture
myocytes
Muscle Cells
Hypertrophy
single nucleotide polymorphism
leukocytes
ancestry
cell culture

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Lin, X., Steinberg, S., Kandasamy, S. K., Afzal, J., Mbiyangandu, B., Liao, S. E., ... Abraham, M. R. (2016). Common miR-590 variant rs6971711 present only in African Americans reduces miR-590 biogenesis. PLoS One, 11(5), [e0156065]. https://doi.org/10.1371/journal.pone.0156065

Common miR-590 variant rs6971711 present only in African Americans reduces miR-590 biogenesis. / Lin, Xiaoping; Steinberg, Steven; Kandasamy, Suresh K.; Afzal, Junaid; Mbiyangandu, Blaid; Liao, Susan E.; Guan, Yufan; Corona Villalobos, Celia; Matkovich, Scot J.; Epstein, Neal; Tripodi, Dotti; Huo, Zhaoxia; Cutting, Garry R; Abraham, Theodore P.; Fukunaga, Ryuya; Abraham, M. Roselle.

In: PLoS One, Vol. 11, No. 5, e0156065, 01.05.2016.

Research output: Contribution to journalArticle

Lin, X, Steinberg, S, Kandasamy, SK, Afzal, J, Mbiyangandu, B, Liao, SE, Guan, Y, Corona Villalobos, C, Matkovich, SJ, Epstein, N, Tripodi, D, Huo, Z, Cutting, GR, Abraham, TP, Fukunaga, R & Abraham, MR 2016, 'Common miR-590 variant rs6971711 present only in African Americans reduces miR-590 biogenesis', PLoS One, vol. 11, no. 5, e0156065. https://doi.org/10.1371/journal.pone.0156065
Lin X, Steinberg S, Kandasamy SK, Afzal J, Mbiyangandu B, Liao SE et al. Common miR-590 variant rs6971711 present only in African Americans reduces miR-590 biogenesis. PLoS One. 2016 May 1;11(5). e0156065. https://doi.org/10.1371/journal.pone.0156065
Lin, Xiaoping ; Steinberg, Steven ; Kandasamy, Suresh K. ; Afzal, Junaid ; Mbiyangandu, Blaid ; Liao, Susan E. ; Guan, Yufan ; Corona Villalobos, Celia ; Matkovich, Scot J. ; Epstein, Neal ; Tripodi, Dotti ; Huo, Zhaoxia ; Cutting, Garry R ; Abraham, Theodore P. ; Fukunaga, Ryuya ; Abraham, M. Roselle. / Common miR-590 variant rs6971711 present only in African Americans reduces miR-590 biogenesis. In: PLoS One. 2016 ; Vol. 11, No. 5.
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