Sex hormone receptor gene variation associated with phenotype in male hypertrophic cardiomyopathy patients

Joanne M. Lind, Christine Chiu, Jodie Ingles, Laura Yeates, Stephen E. Humphries, Alison K. Heather, Christopher Semsarian*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

50 Citations (Scopus)


Hypertrophic cardiomyopathy (HCM) is a clinically heterogeneous disease, which suggests that a number of factors exist which modify disease outcome. Gender may be one such factor as more males present with the disease compared with females. The aim of the present study was to determine if an association exists between genetic variation in sex hormone receptors and the development of left ventricular hypertrophy in HCM. The study population included 200 unrelated individuals from an Australian HCM cohort. Clinical evaluation was performed. Genetic analysis of the androgen receptor (AR), estrogen receptor 1 (ESR1), estrogen receptor 2 (ESR2), and aromatase (CYP19A1) genes, was carried out in all patients. Fewer (CAG)n repeats within the AR gene were significantly associated with higher maximal left ventricular wall thickness (LVWT) in males (P = 0.008), adjusting for age. Male carriers of the A allele at SNP rs6915267, located in the promoter region of ESR1, had an 11% decrease in mean LVWT compared to male GG homozygotes (P = 0.047). We report for the first time that variation at the AR gene is associated with left ventricular hypertrophy in males with HCM. Understanding the impact of sex hormones on phenotype will be helpful in the risk stratification and clinical management of HCM patients.

Original languageEnglish
Pages (from-to)217-222
Number of pages6
JournalJournal of Molecular and Cellular Cardiology
Issue number2
Publication statusPublished - Aug 2008
Externally publishedYes


  • Cardiomyopathy
  • Genetics
  • Hypertrophy
  • Modifiers
  • Sex hormones


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