Mitochondrial Haplogroups H and J: Risk and Protective Factors for Ischemic Cardiomyopathy
Publication Date
August 28, 2012
Journal
PLOS ONE
Authors
Mariana Fernández Caggiano, Javier Barallobre Barreiro, Ignacio Rego Pérez, María G. Crespo Leiro, et al
Volume
7
Issue
8
Pages
e44128
DOI
https://dx.plos.org/10.1371/journal.pone.0044128
Publisher URL
http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0044128
PubMed
http://www.ncbi.nlm.nih.gov/pubmed/22937160
PubMed Central
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3429437
Europe PMC
http://europepmc.org/abstract/MED/22937160
Web of Science
000308213600081
Scopus
84865463575
Mendeley
http://www.mendeley.com/research/mitochondrial-haplogroups-h-j-risk-protective-factors-ischemic-cardiomyopathy
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Mendeley | Further Information

{"title"=>"Mitochondrial Haplogroups H and J: Risk and Protective Factors for Ischemic Cardiomyopathy", "type"=>"journal", "authors"=>[{"first_name"=>"Mariana", "last_name"=>"Fernández-Caggiano", "scopus_author_id"=>"55037517100"}, {"first_name"=>"Javier", "last_name"=>"Barallobre-Barreiro", "scopus_author_id"=>"35336217900"}, {"first_name"=>"Ignacio", "last_name"=>"Rego-Pérez", "scopus_author_id"=>"24554214500"}, {"first_name"=>"María G.", "last_name"=>"Crespo-Leiro", "scopus_author_id"=>"35401291200"}, {"first_name"=>"María Jesus", "last_name"=>"Paniagua", "scopus_author_id"=>"7005203346"}, {"first_name"=>"Zulaika", "last_name"=>"Grillé", "scopus_author_id"=>"23093446300"}, {"first_name"=>"Francisco J.", "last_name"=>"Blanco", "scopus_author_id"=>"7102243071"}, {"first_name"=>"Nieves", "last_name"=>"Doménech", "scopus_author_id"=>"6603880265"}], "year"=>2012, "source"=>"PLoS ONE", "identifiers"=>{"pmid"=>"22937160", "issn"=>"19326203", "doi"=>"10.1371/journal.pone.0044128", "pui"=>"365529273", "isbn"=>"1932-6203 (Electronic)\\r1932-6203 (Linking)", "scopus"=>"2-s2.0-84865463575", "sgr"=>"84865463575"}, "id"=>"f6ba1c54-b03d-3898-96ab-0adab280a78a", "abstract"=>"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.\\n\\nMETHODOLOGY 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.\\n\\nCONCLUSIONS AND SIGNIFICANCE: Our results showed that the haplogroups H and J were found as a risk and protective factors for ischemic cardiomyopathy development, respectively.", "link"=>"http://www.mendeley.com/research/mitochondrial-haplogroups-h-j-risk-protective-factors-ischemic-cardiomyopathy", "reader_count"=>12, "reader_count_by_academic_status"=>{"Researcher"=>5, "Student > Doctoral Student"=>1, "Student > Postgraduate"=>2, "Other"=>1, "Student > Master"=>3}, "reader_count_by_user_role"=>{"Researcher"=>5, "Student > Doctoral Student"=>1, "Student > Postgraduate"=>2, "Other"=>1, "Student > Master"=>3}, "reader_count_by_subject_area"=>{"Biochemistry, Genetics and Molecular Biology"=>5, "Agricultural and Biological Sciences"=>6, "Medicine and Dentistry"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>6}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>5}}, "reader_count_by_country"=>{"Brazil"=>1}, "group_count"=>3}

Scopus | Further Information

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/585112"], "description"=>"<p>R: primer in reverse orientation; F:primer in forward orientation.</p>*<p>Lower case letters indicate the unspecific nucleotides in 5′-end of the SBE primer. PCR products for RFLP analysis were digested with the corresponding restriction enzyme and digested PCR products appeared like three fragments in agarose gel.</p>", "links"=>[], "tags"=>["sequences", "multiplex", "sbe"], "article_id"=>255600, "categories"=>["Physiology", "Biological Sciences", "Genetics", "Biotechnology", "Evolutionary Biology"], "users"=>["Mariana Fernández-Caggiano", "Javier Barallobre-Barreiro", "Ignacio Rego-Pérez", "María G. Crespo-Leiro", "María Jesus Paniagua", "Zulaika Grillé", "Francisco J. Blanco", "Nieves Doménech"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0044128.t001", "stats"=>{"downloads"=>3, "page_views"=>14, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Primer_sequences_used_for_in_multiplex_PCR_SBE_and_PCR_RFLP_/255600", "title"=>"Primer sequences used for in multiplex PCR, SBE and PCR-RFLP.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2012-08-28 01:33:20"}
  • {"files"=>["https://ndownloader.figshare.com/files/585191"], "description"=>"<p>OR. Odds Ratio. 95%CI. Confidence Intervals. IC. Ischemic cardiomyopathy.</p>*<p>Bonferroni corrected p-value <0.05/8 for haplogroups and p-value <0.05/4 for clusters. Significant differences (p-value<0.05) are indicated in bold.</p>", "links"=>[], "tags"=>["mitochondrial", "haplogroups", "clusters", "controls", "patients"], "article_id"=>255679, "categories"=>["Physiology", "Biological Sciences", "Genetics", "Biotechnology", "Evolutionary Biology"], "users"=>["Mariana Fernández-Caggiano", "Javier Barallobre-Barreiro", "Ignacio Rego-Pérez", "María G. Crespo-Leiro", "María Jesus Paniagua", "Zulaika Grillé", "Francisco J. Blanco", "Nieves Doménech"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0044128.t002", "stats"=>{"downloads"=>1, "page_views"=>2, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Frequencies_and_OR_of_mitochondrial_haplogroups_and_clusters_in_controls_and_patients_with_IC_/255679", "title"=>"Frequencies and OR of mitochondrial haplogroups and clusters in controls and patients with IC.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2012-08-28 01:34:39"}
  • {"files"=>["https://ndownloader.figshare.com/files/585148"], "description"=>"<p>B. Regression coefficient. SEM. Standart error of the mean. OR. Odds Ratio. 95%CI. Confidence Intervals.</p><p>Significant differences (p-value<0.05) are indicated in bold.</p>", "links"=>[], "tags"=>["genetics and genomics", "public health and epidemiology", "physiology", "Computational biology", "Evolutionary biology"], "article_id"=>255629, "categories"=>["Physiology", "Biological Sciences", "Genetics", "Biotechnology", "Evolutionary Biology"], "users"=>["Mariana Fernández-Caggiano", "Javier Barallobre-Barreiro", "Ignacio Rego-Pérez", "María G. Crespo-Leiro", "María Jesus Paniagua", "Zulaika Grillé", "Francisco J. Blanco", "Nieves Doménech"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0044128.t003", "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Multivariate_analysis_of_the_study_groups_/255629", "title"=>"Multivariate analysis of the study groups.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2012-08-28 01:33:49"}
  • {"files"=>["https://ndownloader.figshare.com/files/307214", "https://ndownloader.figshare.com/files/307226"], "description"=>"<div><h3>Background</h3><p>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.</p> <h3>Methodology and principal findings</h3><p>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.</p> <h3>Conclusions and significance</h3><p>Our results showed that the haplogroups H and J were found as a risk and protective factors for ischemic cardiomyopathy development, respectively.</p> </div>", "links"=>[], "tags"=>["mitochondrial", "haplogroups", "factors", "ischemic", "cardiomyopathy"], "article_id"=>120613, "categories"=>["Physiology", "Biological Sciences", "Genetics", "Biotechnology", "Evolutionary Biology"], "users"=>["Mariana Fernández-Caggiano", "Javier Barallobre-Barreiro", "Ignacio Rego-Pérez", "María G. Crespo-Leiro", "María Jesus Paniagua", "Zulaika Grillé", "Francisco J. Blanco", "Nieves Doménech"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0044128.s001", "https://dx.doi.org/10.1371/journal.pone.0044128.s002"], "stats"=>{"downloads"=>15, "page_views"=>16, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Mitochondrial_Haplogroups_H_and_J_Risk_and_Protective_Factors_for_Ischemic_Cardiomyopathy/120613", "title"=>"Mitochondrial Haplogroups H and J: Risk and Protective Factors for Ischemic Cardiomyopathy", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2012-08-28 00:10:13"}

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Relative Metric

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