The gene expression profile of patients with new-onset heart failure reveals important gender-specific differences

Eur Heart J. 2010 May;31(10):1188-96. doi: 10.1093/eurheartj/ehp549. Epub 2009 Dec 22.


Aims: We sought to test the hypothesis that inherent biological factors contribute to gender differences in disease pathophysiology of new-onset heart failure (HF), which can be detected from the transcriptome of a single endomyocardial biopsy (EMB).

Methods and results: We analysed samples from male (n = 29) and female patients (n = 14) with idiopathic dilated cardiomyopathy (IDCM) and new-onset HF with U133 Plus 2.0 microarrays (Affymetrix) and significance analysis of microarrays (SAM). There were 35 overexpressed and 16 downregulated transcripts in men vs. women [q < 5%, fold change (FC) > 1.2]. In addition to overexpression of Y-chromosome-related transcripts (n = 18), such as USP9Y (FC > 13.1), DDX3Y (FC > 11.3), RPS4Y1 (FC > 9.9), and EIF1AY (FC > 11.8) in males, there was overexpression of CD24 (FC > 5.6) and KCNK1 (FC > 1.5). In females, XIST was highly overexpressed (FC > 28.9), together with X-linked zinc finger proteins (FC > 1.9) and autosomal genes GATAD1 (FC > 1.6), SLC2A12 (FC > 2.9), and PDE6B (FC > 1.5). Analysis of a public data set of end-stage IDCM (n = 15) resulted in approximately 85% overlap with our findings.

Conclusion: This is the first study that identified gender-specific transcriptomic differences in new-onset HF. Our findings may offer novel insights into fundamental biological differences in the pathophysiology of HF between sexes and provide a platform for personalized medicine.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Blotting, Western
  • Cardiomyopathy, Dilated / genetics
  • Female
  • Gene Expression*
  • Heart Failure / genetics*
  • Humans
  • Male
  • Microarray Analysis
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sex Factors*
  • Stroke Volume / genetics
  • Transcription Factors / genetics


  • Transcription Factors

Supplementary concepts

  • Idiopathic dilation cardiomyopathy