Association of the Genetic Variation in the Long Non-Coding RNA FENDRR with the Risk of Developing Hypertrophic Cardiomyopathy

<b>Background:</b> In around 40–60% of Hypertrophic Cardiomyopathy (HCM) cases pathogenic variants are not identified. Our aim was to evaluate the possible association of lncRNAs with the risk of developing HCM. <b>Methods:</b> We sequenced 10 lncRNAs coding genes that have b...

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Main Authors: Elías Cuesta-Llavona, Rebeca Lorca, Valeria Rolle, Belén Alonso, Sara Iglesias, Julian Rodríguez-Reguero, Israel David Duarte-Herrera, Sergio Pérez-Oliveira, Alejandro Junco-Vicente, Claudia García Lago, Eliecer Coto, Juan Gómez
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Language:English
Published: MDPI AG 2022-05-01
Series:Life
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Online Access:https://www.mdpi.com/2075-1729/12/6/818
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author Elías Cuesta-Llavona
Rebeca Lorca
Valeria Rolle
Belén Alonso
Sara Iglesias
Julian Rodríguez-Reguero
Israel David Duarte-Herrera
Sergio Pérez-Oliveira
Alejandro Junco-Vicente
Claudia García Lago
Eliecer Coto
Juan Gómez
author_facet Elías Cuesta-Llavona
Rebeca Lorca
Valeria Rolle
Belén Alonso
Sara Iglesias
Julian Rodríguez-Reguero
Israel David Duarte-Herrera
Sergio Pérez-Oliveira
Alejandro Junco-Vicente
Claudia García Lago
Eliecer Coto
Juan Gómez
author_sort Elías Cuesta-Llavona
collection DOAJ
description <b>Background:</b> In around 40–60% of Hypertrophic Cardiomyopathy (HCM) cases pathogenic variants are not identified. Our aim was to evaluate the possible association of lncRNAs with the risk of developing HCM. <b>Methods:</b> We sequenced 10 lncRNAs coding genes that have been associated with cardiovascular disease in a discovery cohort (238 HCM patients and 212 controls) by NGS, and genotyped rs74035787 G>A and rs1424019 A>G polymorphism in a validation cohort (962 HCM patients and 923 controls). Finally, we sequenced the <i>FENDRR</i> promoter by Sanger sequencing. <b>Results:</b> We observed by NGS that <i>FENDRR</i> rs39527, rs39529 and rs40384 polymorphisms were significantly associated with HCM in our cohort (<i>p</i> = 0.0284; OR: 0.24, 95%CI: 0.07–0.86). NGS results were confirmed by genotyping rs74035787 polymorphism (<i>p</i> = 0.001; OR:0.38, 95%CI: 0.21–0.66). Moreover, it is also associated when stratification by sex (<i>p</i> = 0.003; OR:0.20, 95%CI: 0.06–0.53), and age (≥50 years old <i>p</i> = 0.001, OR:0.33, 95%CI: 0.16–0.63) Moreover, the risk of HCM in the carriers of the GG genotype of the rs1424019 polymorphism was significantly higher than that of the AA/AG genotypes carriers in the elderly subjects (<i>p</i> = 0.045, OR:1.24, 95%CI: 1.01–1.53). On the other hand, we observed significant differences in the rs74035787 A/rs1424019 G haplotype frequency (<i>p</i> = 0.0035; OR: 0.20, 95%CI: 0.07–0.59). <b>Conclusions:</b> Our study suggested a significant association between <i>FENDRR</i> gene variants and HCM.
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spelling doaj.art-169ada01d2b345c9ac3f3ebce6527d0e2023-11-23T17:35:57ZengMDPI AGLife2075-17292022-05-0112681810.3390/life12060818Association of the Genetic Variation in the Long Non-Coding RNA FENDRR with the Risk of Developing Hypertrophic CardiomyopathyElías Cuesta-Llavona0Rebeca Lorca1Valeria Rolle2Belén Alonso3Sara Iglesias4Julian Rodríguez-Reguero5Israel David Duarte-Herrera6Sergio Pérez-Oliveira7Alejandro Junco-Vicente8Claudia García Lago9Eliecer Coto10Juan Gómez11Hospital Universitario Central de Asturias (HUCA), 33011 Oviedo, SpainHospital Universitario Central de Asturias (HUCA), 33011 Oviedo, SpainInstituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, SpainHospital Universitario Central de Asturias (HUCA), 33011 Oviedo, SpainHospital Universitario Central de Asturias (HUCA), 33011 Oviedo, SpainHospital Universitario Central de Asturias (HUCA), 33011 Oviedo, SpainHospital Universitario Central de Asturias (HUCA), 33011 Oviedo, SpainHospital Universitario Central de Asturias (HUCA), 33011 Oviedo, SpainHospital Universitario Central de Asturias (HUCA), 33011 Oviedo, SpainInstituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, SpainHospital Universitario Central de Asturias (HUCA), 33011 Oviedo, SpainHospital Universitario Central de Asturias (HUCA), 33011 Oviedo, Spain<b>Background:</b> In around 40–60% of Hypertrophic Cardiomyopathy (HCM) cases pathogenic variants are not identified. Our aim was to evaluate the possible association of lncRNAs with the risk of developing HCM. <b>Methods:</b> We sequenced 10 lncRNAs coding genes that have been associated with cardiovascular disease in a discovery cohort (238 HCM patients and 212 controls) by NGS, and genotyped rs74035787 G>A and rs1424019 A>G polymorphism in a validation cohort (962 HCM patients and 923 controls). Finally, we sequenced the <i>FENDRR</i> promoter by Sanger sequencing. <b>Results:</b> We observed by NGS that <i>FENDRR</i> rs39527, rs39529 and rs40384 polymorphisms were significantly associated with HCM in our cohort (<i>p</i> = 0.0284; OR: 0.24, 95%CI: 0.07–0.86). NGS results were confirmed by genotyping rs74035787 polymorphism (<i>p</i> = 0.001; OR:0.38, 95%CI: 0.21–0.66). Moreover, it is also associated when stratification by sex (<i>p</i> = 0.003; OR:0.20, 95%CI: 0.06–0.53), and age (≥50 years old <i>p</i> = 0.001, OR:0.33, 95%CI: 0.16–0.63) Moreover, the risk of HCM in the carriers of the GG genotype of the rs1424019 polymorphism was significantly higher than that of the AA/AG genotypes carriers in the elderly subjects (<i>p</i> = 0.045, OR:1.24, 95%CI: 1.01–1.53). On the other hand, we observed significant differences in the rs74035787 A/rs1424019 G haplotype frequency (<i>p</i> = 0.0035; OR: 0.20, 95%CI: 0.07–0.59). <b>Conclusions:</b> Our study suggested a significant association between <i>FENDRR</i> gene variants and HCM.https://www.mdpi.com/2075-1729/12/6/818lncRNAsHypertrophic CardiomyopathyNGS
spellingShingle Elías Cuesta-Llavona
Rebeca Lorca
Valeria Rolle
Belén Alonso
Sara Iglesias
Julian Rodríguez-Reguero
Israel David Duarte-Herrera
Sergio Pérez-Oliveira
Alejandro Junco-Vicente
Claudia García Lago
Eliecer Coto
Juan Gómez
Association of the Genetic Variation in the Long Non-Coding RNA FENDRR with the Risk of Developing Hypertrophic Cardiomyopathy
Life
lncRNAs
Hypertrophic Cardiomyopathy
NGS
title Association of the Genetic Variation in the Long Non-Coding RNA FENDRR with the Risk of Developing Hypertrophic Cardiomyopathy
title_full Association of the Genetic Variation in the Long Non-Coding RNA FENDRR with the Risk of Developing Hypertrophic Cardiomyopathy
title_fullStr Association of the Genetic Variation in the Long Non-Coding RNA FENDRR with the Risk of Developing Hypertrophic Cardiomyopathy
title_full_unstemmed Association of the Genetic Variation in the Long Non-Coding RNA FENDRR with the Risk of Developing Hypertrophic Cardiomyopathy
title_short Association of the Genetic Variation in the Long Non-Coding RNA FENDRR with the Risk of Developing Hypertrophic Cardiomyopathy
title_sort association of the genetic variation in the long non coding rna fendrr with the risk of developing hypertrophic cardiomyopathy
topic lncRNAs
Hypertrophic Cardiomyopathy
NGS
url https://www.mdpi.com/2075-1729/12/6/818
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