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Sex differences in the human peripheral blood transcriptome

  • R. Jansen
  • , S. Batista
  • , A.I. Brooks
  • , J.A. Tischfield
  • , G. Willemsen
  • , G. Grootheest
  • , J.J. Hottenga
  • , Y. Milaneschi
  • , H. Mbarek
  • , V. Madar
  • , W. Peyrot
  • , J.M. Vink
  • , C.L. Verweij
  • , E.J.C. de Geus
  • , J.H. Smit
  • , F.A. Wright
  • , P.F. Sullivan
  • , D.I. Boomsma
  • , B.W.J.H. Penninx

Research output: Contribution to JournalArticleAcademicpeer-review

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. © 2014 Jansen et al.; licensee BioMed Central Ltd.
Original languageEnglish
Article number33
Pages (from-to)33
Number of pages12
JournalBMC Genomics
Volume15
DOIs
Publication statusPublished - 2014

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

Cohort Studies

  • Netherlands Twin Register (NTR)

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