Correlation of miR-146a-5p plasma levels and rs2910164 polymorphism with left ventricle outflow tract obstruction in hypertrophic cardiomyopathy

Objective: Hypertrophic cardiomyopathy (HCM) is a genetic disease of the myocardium that is characterized by phenotypic variability among patients. miR-146a is a small non-coding RNA that is well known for its role in inflammation and myocardial hypertrophy. The aim of this study is to evaluate the...

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Autores principales: Dimitrios Ntelios, Georgios Efthimiadis, Thomas Zegkos, Matthaios Didagelos, Theodora Katopodi, Soultana Meditskou, Despoina Parcharidou, Haralampos Karvounis, Georgios Tzimagiorgis
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Publicado: Elsevier 2021
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spelling oai:doaj.org-article:fbf9a7b6d49a47888afb4613a78fe3342021-11-14T04:30:59ZCorrelation of miR-146a-5p plasma levels and rs2910164 polymorphism with left ventricle outflow tract obstruction in hypertrophic cardiomyopathy1109-966610.1016/j.hjc.2020.04.015https://doaj.org/article/fbf9a7b6d49a47888afb4613a78fe3342021-09-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S110996662030083Xhttps://doaj.org/toc/1109-9666Objective: Hypertrophic cardiomyopathy (HCM) is a genetic disease of the myocardium that is characterized by phenotypic variability among patients. miR-146a is a small non-coding RNA that is well known for its role in inflammation and myocardial hypertrophy. The aim of this study is to evaluate the role of miR-146a as a candidate genetic factor influencing HCM phenotype. Methods: In this study, 140 HCM patients and 112 control individuals were genotyped for the rs2910164 single nucleotide polymorphism (SNP) in the MIR146A gene; using this data, the correlation between different genotypes and clinical features of the disease were determined. Additionally, plasma levels of miR-146a-5p were determined in 50 HCM patients and 30 control individuals by using qPCR. Results: The incidence of GC and CC genotypes were significantly lower in HCM patients (odds ratio (OR) = 0.5 [0.3–0.8], p = 0.007). The GC/CC genotypes in the dominant genetic model positively correlated with the presence of left ventricle outflow tract (LVOT) obstruction (OR = 2.3 [1.2–4.7] and p = 0.018), a higher left ventricle mass index (118 ± 47 g/m2 vs 92 ± 42 g/m2 and p = 0.02), and increased left ventricle end-diastolic diameter (4.66 ± 0.64cm vs 4.39 ± 0.7cm and p = 0.026). Atrial fibrillation was significantly higher in patients homozygous for the C allele (OR = 10.6 [2–55], p = 0.003). Interestingly, the plasma levels of miR-146a-5p were significantly increased in HCM patients with LVOT obstruction. Conclusion: Our findings indicate that the C allele of the rs2910164 SNP might be under negative selection in HCM patients. Additionally, plasma levels of miR-146a-5p and GC/CC genotypes are indicative of the obstructive phenotype in HCM patients.Dimitrios NteliosGeorgios EfthimiadisThomas ZegkosMatthaios DidagelosTheodora KatopodiSoultana MeditskouDespoina ParcharidouHaralampos KarvounisGeorgios TzimagiorgisElsevierarticlemicroRNAmiR-146ahypertrophic cardiomyopathyhypertrophyexosomesDiseases of the circulatory (Cardiovascular) systemRC666-701ENHellenic Journal of Cardiology, Vol 62, Iss 5, Pp 349-354 (2021)
institution DOAJ
collection DOAJ
language EN
topic microRNA
miR-146a
hypertrophic cardiomyopathy
hypertrophy
exosomes
Diseases of the circulatory (Cardiovascular) system
RC666-701
spellingShingle microRNA
miR-146a
hypertrophic cardiomyopathy
hypertrophy
exosomes
Diseases of the circulatory (Cardiovascular) system
RC666-701
Dimitrios Ntelios
Georgios Efthimiadis
Thomas Zegkos
Matthaios Didagelos
Theodora Katopodi
Soultana Meditskou
Despoina Parcharidou
Haralampos Karvounis
Georgios Tzimagiorgis
Correlation of miR-146a-5p plasma levels and rs2910164 polymorphism with left ventricle outflow tract obstruction in hypertrophic cardiomyopathy
description Objective: Hypertrophic cardiomyopathy (HCM) is a genetic disease of the myocardium that is characterized by phenotypic variability among patients. miR-146a is a small non-coding RNA that is well known for its role in inflammation and myocardial hypertrophy. The aim of this study is to evaluate the role of miR-146a as a candidate genetic factor influencing HCM phenotype. Methods: In this study, 140 HCM patients and 112 control individuals were genotyped for the rs2910164 single nucleotide polymorphism (SNP) in the MIR146A gene; using this data, the correlation between different genotypes and clinical features of the disease were determined. Additionally, plasma levels of miR-146a-5p were determined in 50 HCM patients and 30 control individuals by using qPCR. Results: The incidence of GC and CC genotypes were significantly lower in HCM patients (odds ratio (OR) = 0.5 [0.3–0.8], p = 0.007). The GC/CC genotypes in the dominant genetic model positively correlated with the presence of left ventricle outflow tract (LVOT) obstruction (OR = 2.3 [1.2–4.7] and p = 0.018), a higher left ventricle mass index (118 ± 47 g/m2 vs 92 ± 42 g/m2 and p = 0.02), and increased left ventricle end-diastolic diameter (4.66 ± 0.64cm vs 4.39 ± 0.7cm and p = 0.026). Atrial fibrillation was significantly higher in patients homozygous for the C allele (OR = 10.6 [2–55], p = 0.003). Interestingly, the plasma levels of miR-146a-5p were significantly increased in HCM patients with LVOT obstruction. Conclusion: Our findings indicate that the C allele of the rs2910164 SNP might be under negative selection in HCM patients. Additionally, plasma levels of miR-146a-5p and GC/CC genotypes are indicative of the obstructive phenotype in HCM patients.
format article
author Dimitrios Ntelios
Georgios Efthimiadis
Thomas Zegkos
Matthaios Didagelos
Theodora Katopodi
Soultana Meditskou
Despoina Parcharidou
Haralampos Karvounis
Georgios Tzimagiorgis
author_facet Dimitrios Ntelios
Georgios Efthimiadis
Thomas Zegkos
Matthaios Didagelos
Theodora Katopodi
Soultana Meditskou
Despoina Parcharidou
Haralampos Karvounis
Georgios Tzimagiorgis
author_sort Dimitrios Ntelios
title Correlation of miR-146a-5p plasma levels and rs2910164 polymorphism with left ventricle outflow tract obstruction in hypertrophic cardiomyopathy
title_short Correlation of miR-146a-5p plasma levels and rs2910164 polymorphism with left ventricle outflow tract obstruction in hypertrophic cardiomyopathy
title_full Correlation of miR-146a-5p plasma levels and rs2910164 polymorphism with left ventricle outflow tract obstruction in hypertrophic cardiomyopathy
title_fullStr Correlation of miR-146a-5p plasma levels and rs2910164 polymorphism with left ventricle outflow tract obstruction in hypertrophic cardiomyopathy
title_full_unstemmed Correlation of miR-146a-5p plasma levels and rs2910164 polymorphism with left ventricle outflow tract obstruction in hypertrophic cardiomyopathy
title_sort correlation of mir-146a-5p plasma levels and rs2910164 polymorphism with left ventricle outflow tract obstruction in hypertrophic cardiomyopathy
publisher Elsevier
publishDate 2021
url https://doaj.org/article/fbf9a7b6d49a47888afb4613a78fe334
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