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2722466 
Journal Article 
Sex differences in the human peripheral blood transcriptome 
Jansen, R; Batista, S; Brooks, AI; Tischfield, JayA; Willemsen, G; van Grootheest, G; Hottenga, JJan; Milaneschi, Y; Mbarek, H; Madar, V; Peyrot, W; Vink, JM; Verweij, CorL; de Geus, EcoJC; Smit, JH; Wright, FA; Sullivan, PF; Boomsma, DI; Penninx, BWJH 
2014 
Yes 
BMC Genomics
ISSN: 1471-2164 
15 
33 
English 
24438232 
WOS:000331095600001 
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.