title: The alpha 2C Del322-325 adrenergic receptor polymorphism is not associated with heart failure due to idiopathic dilated cardiomyopathy in black Africans.
abstract: BACKGROUND
  A four-amino acid deletion was identified within the alpha 2C-adrenergic receptor (alpha 2C Del322-325) that, when homozygous, increases the risk of heart failure in African-Americans nearly six-fold. We hypothesised that homozygosity for the alpha 2C Del322-325 polymorphism may be a risk factor for heart failure due to idiopathic dilated cardiomyopathy (DCM) in black South Africans.
  
  
  METHODS
  The alpha 2C Del322-325 polymorphism was genotyped in 37 patients with heart failure and 34 controls, all of black African ancestry. Genotyping was performed by a size-fractionation assay.
  
  
  RESULTS
  The patients studied ranged in age from 21 to 79 years with a mean age of 50 years, and 62% were male. No significant difference was observed in homozygosity for the alpha 2C Del322-325 polymorphism or in allele and genotype frequencies between patients and controls. The frequency of the allele containing the deletion was 0.54 in cases and 0.53 in controls. The genotype frequencies in the patients were consistent with those of the controls (p = 0.56).
  
  
  CONCLUSIONS
  Homozygosity for the alpha 2C Del322-325 polymorphism is not associated with an increased risk for heart failure due to idiopathic DCM in black South Africans.
authors.affiliation: Department of Medicine, Groote Schuur Hospital and University of Cape Town, Cape Town.
authors.forename: J
authors.initials: J
authors.lastname: Du Preez
authors.forename: L O
authors.initials: LO
authors.lastname: Matolweni
authors.forename: J
authors.initials: J
authors.lastname: Greenberg
authors.forename: P
authors.initials: P
authors.lastname: Mntla
authors.forename: A A
authors.initials: AA
authors.lastname: Adeyemo
authors.forename: B M
authors.initials: BM
authors.lastname: Mayosi
mesh_terms: D000328:Adult; D000368:Aged; D044383:Black People; D002311:Cardiomyopathy, Dilated / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006333:Heart Failure / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D018341:Receptors, Adrenergic, alpha-2 / Q000235:genetics*; D012307:Risk Factors; D013019:South Africa; D001741:Black or African American
chemical_list: C547774:ADRA2C protein, human; D018341:Receptors, Adrenergic, alpha-2