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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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) |
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microRNA miR-146a hypertrophic cardiomyopathy hypertrophy exosomes Diseases of the circulatory (Cardiovascular) system RC666-701 |
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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 |
work_keys_str_mv |
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