title: Lack of Influence of the Androgen Receptor Gene CAG-Repeat Polymorphism on Clinical and Electrocardiographic Manifestations of the Brugada Syndrome in Man.
abstract: BACKGROUND
  Clinical studies suggest that testosterone (T) plays an important role in the male predominance of the clinical manifestations of the Brugada syndrome (BS). However, no statistically significant correlations have been observed between T levels and electrocardiogram (ECG) parameters in the BS patients. We investigated whether the hormonal pattern and the variation within CAG repeat polymorphism in exon 1 of the androgen receptor (AR) gene, affecting androgen sensitivity, are associated with the Brugada ECG phenotype in males.
  
  
  RESULTS
  16 male patients with BS (mean age 45.06 ± 11.3 years) were studied. 12-lead ECG was recorded. Blood levels of follicle-stimulating hormone, luteinizing hormone, prolactin, testosterone, free-T, dihydrotestosterone, 17-β-estradiol, estrone, 3-alpha-androstanediol-glucuronide, delta-4-androstenedione, dehydroepiandrosterone sulphate, progesterone, 17-hydroxyprogesterone, and sex hormone binding globulin were assayed. Genotyping of CAG repeats on DNA extracted from leukocytes was carried out. No relationship was found between hormone values and ECG parameters of BS. BS patients showed the CAG length normally recognized in the human polymorphism range and the number of CAG repeats did not correlate with the ECG pattern of BS.
  
  
  CONCLUSIONS
  The AR CAG repeat length does not correlate with the ECG features of the patients affected by BS. The search for genes downstream AR activation as possibly responsible for the increased risk of spontaneous arrhythmias in BS males after puberty is warranted.
authors.affiliation: Department of Experimental Medicine, Section of Medical Physiopathology and Endocrinology, Sapienza University of Rome, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Mariani
authors.forename: B
authors.initials: B
authors.lastname: Musumeci
authors.forename: S
authors.initials: S
authors.lastname: Basciani
authors.forename: D
authors.initials: D
authors.lastname: Fiore
authors.forename: P
authors.initials: P
authors.lastname: Francia
authors.forename: A
authors.initials: A
authors.lastname: Persichetti
authors.forename: M
authors.initials: M
authors.lastname: Volpe
authors.forename: C
authors.initials: C
authors.lastname: Autore
authors.forename: C
authors.initials: C
authors.lastname: Moretti
authors.forename: S
authors.initials: S
authors.lastname: Ulisse
authors.forename: L
authors.initials: L
authors.lastname: Gnessi
keywords: Brugada syndrome; CAG repeat polymorphism; androgen receptor