The mitochondrial DNA T16189C polymorphism and HIV-associated cardiomyopathy: a genotype-phenotype association study

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dc.contributor.authorShaboodien, Gasnaten_ZA
dc.contributor.authorEngel, Mark Een_ZA
dc.contributor.authorSyed, Faisalen_ZA
dc.contributor.authorPoulton, Joannaen_ZA
dc.contributor.authorBadri, Motasimen_ZA
dc.contributor.authorMayosi, Bonganien_ZA
dc.date.accessioned2015-11-04T11:47:10Z
dc.date.available2015-11-04T11:47:10Z
dc.date.issued2009en_ZA
dc.description.abstractBACKGROUND: The mitochondrial DNA (mtDNA) T16189C polymorphism, with a homopolymeric C-tract of 10-12 cytosines, is a putative genetic risk factor for idiopathic dilated cardiomyopathy in the African and British populations. We hypothesized that this variant may predispose to dilated cardiomyopathy in people who are infected with the human immunodeficiency virus (HIV). METHODS: A case-control study of 30 HIV-positive cases with dilated cardiomyopathy and 37 HIV-positive controls without dilated cardiomyopathy was conducted. The study was confined to persons of black African ancestry to minimize confounding of results by population admixture. HIV-positive patients with an echocardiographically confirmed diagnosis of dilated cardiomyopathy and HIV-positive controls with echocardiographically normal hearts were studied. Patients with secondary causes of cardiomyopathy (such as hypertension, diabetes, pregnancy, alcoholism, valvular heart disease, and opportunistic infection) were excluded from the study. DNA samples were sequenced for the mtDNA T16189C polymorphism with a homopolymeric C-tract in the forward and reverse directions on an ABI3100 sequencer. RESULTS: The cases and controls were well matched for age (median 35 years versus 34 years, P = 0.93), gender (males 60% vs 53%, P = 0.54), and stage of HIV disease (mean CD4 T cell count 260.7/muL vs. 176/muL, P = 0.21). The mtDNA T16189C variant with a homopolymeric C-tract was detected at a frequency of 26.7% (8/30) in the HIV-associated cardiomyopathy cases and 13.5% (5/37) in the HIV-positive controls. There was no significant difference between cases and controls (Odds Ratio 2.33, 95% Confidence Interval 0.67-8.06, p = 0.11). CONCLUSION: The mtDNA T16189C variant with a homopolymeric C-tract is not associated with dilated cardiomyopathy in black African people infected with HIV.en_ZA
dc.identifier.apacitationShaboodien, G., Engel, M. E., Syed, F., Poulton, J., Badri, M., & Mayosi, B. (2009). The mitochondrial DNA T16189C polymorphism and HIV-associated cardiomyopathy: a genotype-phenotype association study. <i>BMC Medical Genetics</i>, http://hdl.handle.net/11427/14664en_ZA
dc.identifier.chicagocitationShaboodien, Gasnat, Mark E Engel, Faisal Syed, Joanna Poulton, Motasim Badri, and Bongani Mayosi "The mitochondrial DNA T16189C polymorphism and HIV-associated cardiomyopathy: a genotype-phenotype association study." <i>BMC Medical Genetics</i> (2009) http://hdl.handle.net/11427/14664en_ZA
dc.identifier.citationShaboodien, G., Engel, M. E., Syed, F. F., Poulton, J., Badri, M., & Mayosi, B. M. (2009). The mitochondrial DNA T16189C polymorphism and HIV-associated cardiomyopathy: a genotype-phenotype association study. BMC medical genetics, 10(1), 37.en_ZA
dc.identifier.ris TY - Journal Article AU - Shaboodien, Gasnat AU - Engel, Mark E AU - Syed, Faisal AU - Poulton, Joanna AU - Badri, Motasim AU - Mayosi, Bongani AB - BACKGROUND: The mitochondrial DNA (mtDNA) T16189C polymorphism, with a homopolymeric C-tract of 10-12 cytosines, is a putative genetic risk factor for idiopathic dilated cardiomyopathy in the African and British populations. We hypothesized that this variant may predispose to dilated cardiomyopathy in people who are infected with the human immunodeficiency virus (HIV). METHODS: A case-control study of 30 HIV-positive cases with dilated cardiomyopathy and 37 HIV-positive controls without dilated cardiomyopathy was conducted. The study was confined to persons of black African ancestry to minimize confounding of results by population admixture. HIV-positive patients with an echocardiographically confirmed diagnosis of dilated cardiomyopathy and HIV-positive controls with echocardiographically normal hearts were studied. Patients with secondary causes of cardiomyopathy (such as hypertension, diabetes, pregnancy, alcoholism, valvular heart disease, and opportunistic infection) were excluded from the study. DNA samples were sequenced for the mtDNA T16189C polymorphism with a homopolymeric C-tract in the forward and reverse directions on an ABI3100 sequencer. RESULTS: The cases and controls were well matched for age (median 35 years versus 34 years, P = 0.93), gender (males 60% vs 53%, P = 0.54), and stage of HIV disease (mean CD4 T cell count 260.7/muL vs. 176/muL, P = 0.21). The mtDNA T16189C variant with a homopolymeric C-tract was detected at a frequency of 26.7% (8/30) in the HIV-associated cardiomyopathy cases and 13.5% (5/37) in the HIV-positive controls. There was no significant difference between cases and controls (Odds Ratio 2.33, 95% Confidence Interval 0.67-8.06, p = 0.11). CONCLUSION: The mtDNA T16189C variant with a homopolymeric C-tract is not associated with dilated cardiomyopathy in black African people infected with HIV. DA - 2009 DB - OpenUCT DO - 10.1186/1471-2350-10-37 DP - University of Cape Town J1 - BMC Medical Genetics LK - https://open.uct.ac.za PB - University of Cape Town PY - 2009 T1 - The mitochondrial DNA T16189C polymorphism and HIV-associated cardiomyopathy: a genotype-phenotype association study TI - The mitochondrial DNA T16189C polymorphism and HIV-associated cardiomyopathy: a genotype-phenotype association study UR - http://hdl.handle.net/11427/14664 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/14664
dc.identifier.urihttp://dx.doi.org/10.1186/1471-2350-10-37
dc.identifier.vancouvercitationShaboodien G, Engel ME, Syed F, Poulton J, Badri M, Mayosi B. The mitochondrial DNA T16189C polymorphism and HIV-associated cardiomyopathy: a genotype-phenotype association study. BMC Medical Genetics. 2009; http://hdl.handle.net/11427/14664.en_ZA
dc.language.isoengen_ZA
dc.publisherBioMed Central Ltden_ZA
dc.publisher.departmentDivision of Cardiologyen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.rightsThis is an Open Access article distributed under the terms of the Creative Commons Attribution Licenseen_ZA
dc.rights.holder2009 Shaboodien et al; licensee BioMed Central Ltd.en_ZA
dc.rights.urihttp://creativecommons.org/licenses/by/2.0en_ZA
dc.sourceBMC Medical Geneticsen_ZA
dc.source.urihttp://www.biomedcentral.com/bmcmedgenet/en_ZA
dc.subject.otherMitochondrial DNAen_ZA
dc.subject.othergenetic polymorphismsen_ZA
dc.subject.othercardiomyopathiesen_ZA
dc.subject.otherAfricansen_ZA
dc.subject.otherHIV infectionsen_ZA
dc.titleThe mitochondrial DNA T16189C polymorphism and HIV-associated cardiomyopathy: a genotype-phenotype association studyen_ZA
dc.typeJournal Articleen_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceArticleen_ZA
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