Mitochondrial haplogroups H and J: risk and protective factors for ischemic cardiomyopathy

Background: Since mitochondria are the principal source of reactive oxygen species (ROS), these organelles may play an important role in ischemic cardiomyopathy (IC) development. The mitochondrial genome may influence this disease. The aim of the present study was to test the relationship between IC...

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Autores: Fernández Caggiano, Mariana, Barallobre Barreiro, Javier, Rego Pérez, Ignacio, Crespo Leiro, Marisa, Paniagua Martín, María Jesús, Grille Cancela, Zulaika, BLANCO GARCIA, FRANCISCO JAVIER, Domenech García, Nieves
Tipo de recurso: artículo
Fecha de publicación:2012
País:España
Institución:Servizo Galego de Saúde (SERGAS)
Repositorio:RUNA. Repositorio da Consellería de Sanidade e Sergas
OAI Identifier:oai:runa.sergas.gal:20.500.11940/7550
Acceso en línea:http://hdl.handle.net/20.500.11940/7550
Access Level:acceso abierto
Palabra clave:DNA, Mitochondrial
Alleles
European Continental Ancestry Group
Genetic Predisposition to Disease
Mitochondria
Myocardial Ischemia
Isquemia Miocárdica
ADN Mitocondrial
Alelos
Grupo de Ascendencia Continental Europea
Predisposición Genética a la Enfermedad
Mitocondrias
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oai_identifier_str oai:runa.sergas.gal:20.500.11940/7550
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repository_id_str
spelling Mitochondrial haplogroups H and J: risk and protective factors for ischemic cardiomyopathyFernández Caggiano, MarianaBarallobre Barreiro, JavierRego Pérez, IgnacioCrespo Leiro, MarisaPaniagua Martín, María JesúsGrille Cancela, ZulaikaBLANCO GARCIA, FRANCISCO JAVIERDomenech García, NievesDNA, MitochondrialAllelesAllelesEuropean Continental Ancestry GroupGenetic Predisposition to DiseaseMitochondriaMyocardial IschemiaIsquemia MiocárdicaADN MitocondrialAlelosGrupo de Ascendencia Continental EuropeaPredisposición Genética a la EnfermedadMitocondriasBackground: Since mitochondria are the principal source of reactive oxygen species (ROS), these organelles may play an important role in ischemic cardiomyopathy (IC) development. The mitochondrial genome may influence this disease. The aim of the present study was to test the relationship between IC development and the impact of single nucleotide polymorphisms (SNPs) in mitochondrial DNA (mtDNA) defining the mitochondrial haplogroups in a population study. Methodology and principal findings: Ten major European haplogroups were identified by using the single base extension technique and by polymerase chain reaction-restriction fragment length polymorphism. Frequencies and Odds Ratios for the association between IC patients (n = 358) and healthy controls (n = 423) were calculated. No convincing associations between classical risk factors for ischemic cardiomyopathy development and haplogroups were found. However, compared to healthy controls, the prevalence of haplogroup H was significantly higher in IC patients (40.0% vs 50.0%, p-value = 0.039) while the frequency of haplogroup J was significantly lower (11.1% vs 5.6%, p-value = 0.048). The analysis of the SNPs characterizing the European mtDNA haplogroups showed that the m.7028C allele (40.0% vs 50.0%, p-value = 0.005) and m.14766C allele (43.0% vs 54.2%, p-value = 0.002) were overrepresented in IC patients, meanwhile the m.10398G allele (19.8% vs 13.1%, p-value = 0.015) and m.4216C allele (22.2% vs 16.5%, p-value = 0.044) were found as protective factors against IC. Conclusions and significance: Our results showed that the haplogroups H and J were found as a risk and protective factors for ischemic cardiomyopathy development, respectively.2012info:eu-repo/semantics/articlehttp://hdl.handle.net/20.500.11940/7550reponame:RUNA. Repositorio da Consellería de Sanidade e Sergasinstname:Servizo Galego de Saúde (SERGAS)Ingléshttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:runa.sergas.gal:20.500.11940/75502026-06-12T08:40:47Z
dc.title.none.fl_str_mv Mitochondrial haplogroups H and J: risk and protective factors for ischemic cardiomyopathy
title Mitochondrial haplogroups H and J: risk and protective factors for ischemic cardiomyopathy
spellingShingle Mitochondrial haplogroups H and J: risk and protective factors for ischemic cardiomyopathy
Fernández Caggiano, Mariana
DNA, Mitochondrial
Alleles
Alleles
European Continental Ancestry Group
Genetic Predisposition to Disease
Mitochondria
Myocardial Ischemia
Isquemia Miocárdica
ADN Mitocondrial
Alelos
Grupo de Ascendencia Continental Europea
Predisposición Genética a la Enfermedad
Mitocondrias
title_short Mitochondrial haplogroups H and J: risk and protective factors for ischemic cardiomyopathy
title_full Mitochondrial haplogroups H and J: risk and protective factors for ischemic cardiomyopathy
title_fullStr Mitochondrial haplogroups H and J: risk and protective factors for ischemic cardiomyopathy
title_full_unstemmed Mitochondrial haplogroups H and J: risk and protective factors for ischemic cardiomyopathy
title_sort Mitochondrial haplogroups H and J: risk and protective factors for ischemic cardiomyopathy
dc.creator.none.fl_str_mv Fernández Caggiano, Mariana
Barallobre Barreiro, Javier
Rego Pérez, Ignacio
Crespo Leiro, Marisa
Paniagua Martín, María Jesús
Grille Cancela, Zulaika
BLANCO GARCIA, FRANCISCO JAVIER
Domenech García, Nieves
author Fernández Caggiano, Mariana
author_facet Fernández Caggiano, Mariana
Barallobre Barreiro, Javier
Rego Pérez, Ignacio
Crespo Leiro, Marisa
Paniagua Martín, María Jesús
Grille Cancela, Zulaika
BLANCO GARCIA, FRANCISCO JAVIER
Domenech García, Nieves
author_role author
author2 Barallobre Barreiro, Javier
Rego Pérez, Ignacio
Crespo Leiro, Marisa
Paniagua Martín, María Jesús
Grille Cancela, Zulaika
BLANCO GARCIA, FRANCISCO JAVIER
Domenech García, Nieves
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv DNA, Mitochondrial
Alleles
Alleles
European Continental Ancestry Group
Genetic Predisposition to Disease
Mitochondria
Myocardial Ischemia
Isquemia Miocárdica
ADN Mitocondrial
Alelos
Grupo de Ascendencia Continental Europea
Predisposición Genética a la Enfermedad
Mitocondrias
topic DNA, Mitochondrial
Alleles
Alleles
European Continental Ancestry Group
Genetic Predisposition to Disease
Mitochondria
Myocardial Ischemia
Isquemia Miocárdica
ADN Mitocondrial
Alelos
Grupo de Ascendencia Continental Europea
Predisposición Genética a la Enfermedad
Mitocondrias
description Background: Since mitochondria are the principal source of reactive oxygen species (ROS), these organelles may play an important role in ischemic cardiomyopathy (IC) development. The mitochondrial genome may influence this disease. The aim of the present study was to test the relationship between IC development and the impact of single nucleotide polymorphisms (SNPs) in mitochondrial DNA (mtDNA) defining the mitochondrial haplogroups in a population study. Methodology and principal findings: Ten major European haplogroups were identified by using the single base extension technique and by polymerase chain reaction-restriction fragment length polymorphism. Frequencies and Odds Ratios for the association between IC patients (n = 358) and healthy controls (n = 423) were calculated. No convincing associations between classical risk factors for ischemic cardiomyopathy development and haplogroups were found. However, compared to healthy controls, the prevalence of haplogroup H was significantly higher in IC patients (40.0% vs 50.0%, p-value = 0.039) while the frequency of haplogroup J was significantly lower (11.1% vs 5.6%, p-value = 0.048). The analysis of the SNPs characterizing the European mtDNA haplogroups showed that the m.7028C allele (40.0% vs 50.0%, p-value = 0.005) and m.14766C allele (43.0% vs 54.2%, p-value = 0.002) were overrepresented in IC patients, meanwhile the m.10398G allele (19.8% vs 13.1%, p-value = 0.015) and m.4216C allele (22.2% vs 16.5%, p-value = 0.044) were found as protective factors against IC. Conclusions and significance: Our results showed that the haplogroups H and J were found as a risk and protective factors for ischemic cardiomyopathy development, respectively.
publishDate 2012
dc.date.none.fl_str_mv 2012
dc.type.none.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/20.500.11940/7550
url http://hdl.handle.net/20.500.11940/7550
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.source.none.fl_str_mv reponame:RUNA. Repositorio da Consellería de Sanidade e Sergas
instname:Servizo Galego de Saúde (SERGAS)
instname_str Servizo Galego de Saúde (SERGAS)
reponame_str RUNA. Repositorio da Consellería de Sanidade e Sergas
collection RUNA. Repositorio da Consellería de Sanidade e Sergas
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,300719

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