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

<h4>Background</h4>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 rela...

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Autores principales:	Mariana Fernández-Caggiano, Javier Barallobre-Barreiro, Ignacio Rego-Pérez, María G Crespo-Leiro, María Jesus Paniagua, Zulaika Grillé, Francisco J Blanco, Nieves Doménech
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/64a8991c07a04cb59d6e5d1e51324d48
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spelling	oai:doaj.org-article:64a8991c07a04cb59d6e5d1e51324d482021-11-18T07:07:25ZMitochondrial haplogroups H and J: risk and protective factors for ischemic cardiomyopathy.1932-620310.1371/journal.pone.0044128https://doaj.org/article/64a8991c07a04cb59d6e5d1e51324d482012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22937160/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>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.<h4>Methodology and principal findings</h4>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.<h4>Conclusions and significance</h4>Our results showed that the haplogroups H and J were found as a risk and protective factors for ischemic cardiomyopathy development, respectively.Mariana Fernández-CaggianoJavier Barallobre-BarreiroIgnacio Rego-PérezMaría G Crespo-LeiroMaría Jesus PaniaguaZulaika GrilléFrancisco J BlancoNieves DoménechPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 8, p e44128 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Mariana Fernández-Caggiano Javier Barallobre-Barreiro Ignacio Rego-Pérez María G Crespo-Leiro María Jesus Paniagua Zulaika Grillé Francisco J Blanco Nieves Doménech Mitochondrial haplogroups H and J: risk and protective factors for ischemic cardiomyopathy.
description	<h4>Background</h4>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.<h4>Methodology and principal findings</h4>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.<h4>Conclusions and significance</h4>Our results showed that the haplogroups H and J were found as a risk and protective factors for ischemic cardiomyopathy development, respectively.
format	article
author	Mariana Fernández-Caggiano Javier Barallobre-Barreiro Ignacio Rego-Pérez María G Crespo-Leiro María Jesus Paniagua Zulaika Grillé Francisco J Blanco Nieves Doménech
author_facet	Mariana Fernández-Caggiano Javier Barallobre-Barreiro Ignacio Rego-Pérez María G Crespo-Leiro María Jesus Paniagua Zulaika Grillé Francisco J Blanco Nieves Doménech
author_sort	Mariana Fernández-Caggiano
title	Mitochondrial haplogroups H and J: risk and protective factors for ischemic cardiomyopathy.
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.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/64a8991c07a04cb59d6e5d1e51324d48
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Mitochondrial haplogroups H and J: risk and protective factors for ischemic cardiomyopathy.

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