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Open Access Research article

Sex differences in the human peripheral blood transcriptome

Rick Jansen1*, Sandra Batista5, Andrew I Brooks4, Jay A Tischfield4, Gonneke Willemsen2, Gerard van Grootheest1, Jouke-Jan Hottenga2, Yuri Milaneschi1, Hamdi Mbarek2, Vered Madar3, Wouter Peyrot1, Jacqueline M Vink2, Cor L Verweij6, Eco JC de Geus2, Johannes H Smit1, Fred A Wright3, Patrick F Sullivan5, Dorret I Boomsma2 and Brenda WJH Penninx1

Author Affiliations

1 Department of Psychiatry, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands

2 Department of Biological Psychology, VU University Amsterdam, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands

3 Department of Biostatistics, University of North Carolina, North Carolina, USA

4 Department of Genetics and the Human Genetics Institute, Rutgers University Cell and DNA Repository, Rutgers University, New Jersey, USA

5 Departments of Genetics and Psychiatry, University of North Carolina, North Carolina, USA

6 Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands

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BMC Genomics 2014, 15:33  doi:10.1186/1471-2164-15-33

Published: 17 January 2014



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.


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.


This study indicates that sex-bias in gene expression is extensive and may underlie sex-differences in the prevalence of common diseases.