title: The mitochondrial DNA T16189C polymorphism and HIV-associated cardiomyopathy: a genotype-phenotype association study.
abstract: 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/microL vs. 176/microL, 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).
  
  
  CONCLUSIONS
  The mtDNA T16189C variant with a homopolymeric C-tract is not associated with dilated cardiomyopathy in black African people infected with HIV.
authors.affiliation: Department of Clinical Neurology, University of Oxford, The West Wing, The John Radcliffe Hospital, Oxford, OX3 9DU, UK. sramagopalan@gmail.com
authors.forename: Gasnat
authors.initials: G
authors.lastname: Shaboodien
authors.forename: Mark E
authors.initials: ME
authors.lastname: Engel
authors.forename: Faisal F
authors.initials: FF
authors.lastname: Syed
authors.forename: Joanna
authors.initials: J
authors.lastname: Poulton
authors.forename: Motasim
authors.initials: M
authors.lastname: Badri
authors.forename: Bongani M
authors.initials: BM
authors.lastname: Mayosi
mesh_terms: D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000150:complications / Q000235:genetics*; D016022:Case-Control Studies; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D015658:HIV Infections / Q000150:complications / Q000235:genetics*; D006801:Humans; D016015:Logistic Models; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
chemical_list: D004272:DNA, Mitochondrial