Sex differences in the human peripheral blood transcriptome

  • Rick Jansen*
  • , Sandra Batista
  • , Andrew I. Brooks
  • , Jay A. Tischfield
  • , Gonneke Willemsen
  • , Gerard Van Grootheest
  • , Jouke Jan Hottenga
  • , Yuri Milaneschi
  • , Hamdi Mbarek
  • , Vered Madar
  • , Wouter Peyrot
  • , Jacqueline M. Vink
  • , Cor L. Verweij
  • , Eco J.C. de Geus
  • , Johannes H. Smit
  • , Fred A. Wright
  • , Patrick F. Sullivan
  • , Dorret I. Boomsma
  • , Brenda W.J.H. Penninx
  • *Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

127 Citations (Scopus)

Abstract

Background: Genomes of men and women differ in only a limited number of genes located on the sex chromosomes, whereas the transcriptome is far more sex-specific. Identification of sex-biased gene expression will contribute to understanding the molecular basis of sex-differences in complex traits and common diseases.Results: Sex differences in the human peripheral blood transcriptome were characterized using microarrays in 5,241 subjects, accounting for menopause status and hormonal contraceptive use. Sex-specific expression was observed for 582 autosomal genes, of which 57.7% was upregulated in women (female-biased genes). Female-biased genes were enriched for several immune system GO categories, genes linked to rheumatoid arthritis (16%) and genes regulated by estrogen (18%). Male-biased genes were enriched for genes linked to renal cancer (9%). Sex-differences in gene expression were smaller in postmenopausal women, larger in women using hormonal contraceptives and not caused by sex-specific eQTLs, confirming the role of estrogen in regulating sex-biased genes.Conclusions: This study indicates that sex-bias in gene expression is extensive and may underlie sex-differences in the prevalence of common diseases.

Original languageEnglish
Article number33
JournalBMC Genomics
Volume15
Issue number1
DOIs
Publication statusPublished - 17 Jan 2014
Externally publishedYes

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