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BMC Genomics. 2014 Jan 17;15:33. doi: 10.1186/1471-2164-15-33.

Sex differences in the human peripheral blood transcriptome.

Author information

1
Department of Psychiatry, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands. ri.jansen@ggzingeest.nl.

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.

PMID:
24438232
PMCID:
PMC3904696
DOI:
10.1186/1471-2164-15-33
[Indexed for MEDLINE]
Free PMC Article

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