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...
Main Authors: | , , , , , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2022-05-01
|
Series: | Life |
Subjects: | |
Online Access: | https://www.mdpi.com/2075-1729/12/6/818 |
_version_ | 1797485196076908544 |
---|---|
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. |
first_indexed | 2024-03-09T23:15:17Z |
format | Article |
id | doaj.art-169ada01d2b345c9ac3f3ebce6527d0e |
institution | Directory Open Access Journal |
issn | 2075-1729 |
language | English |
last_indexed | 2024-03-09T23:15:17Z |
publishDate | 2022-05-01 |
publisher | MDPI AG |
record_format | Article |
series | Life |
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 |
work_keys_str_mv | AT eliascuestallavona associationofthegeneticvariationinthelongnoncodingrnafendrrwiththeriskofdevelopinghypertrophiccardiomyopathy AT rebecalorca associationofthegeneticvariationinthelongnoncodingrnafendrrwiththeriskofdevelopinghypertrophiccardiomyopathy AT valeriarolle associationofthegeneticvariationinthelongnoncodingrnafendrrwiththeriskofdevelopinghypertrophiccardiomyopathy AT belenalonso associationofthegeneticvariationinthelongnoncodingrnafendrrwiththeriskofdevelopinghypertrophiccardiomyopathy AT saraiglesias associationofthegeneticvariationinthelongnoncodingrnafendrrwiththeriskofdevelopinghypertrophiccardiomyopathy AT julianrodriguezreguero associationofthegeneticvariationinthelongnoncodingrnafendrrwiththeriskofdevelopinghypertrophiccardiomyopathy AT israeldavidduarteherrera associationofthegeneticvariationinthelongnoncodingrnafendrrwiththeriskofdevelopinghypertrophiccardiomyopathy AT sergioperezoliveira associationofthegeneticvariationinthelongnoncodingrnafendrrwiththeriskofdevelopinghypertrophiccardiomyopathy AT alejandrojuncovicente associationofthegeneticvariationinthelongnoncodingrnafendrrwiththeriskofdevelopinghypertrophiccardiomyopathy AT claudiagarcialago associationofthegeneticvariationinthelongnoncodingrnafendrrwiththeriskofdevelopinghypertrophiccardiomyopathy AT eliecercoto associationofthegeneticvariationinthelongnoncodingrnafendrrwiththeriskofdevelopinghypertrophiccardiomyopathy AT juangomez associationofthegeneticvariationinthelongnoncodingrnafendrrwiththeriskofdevelopinghypertrophiccardiomyopathy |