Influence of sex and genetic variability on expression of X-linked genes in human monocytes

Raphaële Castagné*, Tanja Zeller, Maxime Rotival, Silke Szymczak, Vinh Truong, Arne Schillert, David Alexandre Trégouët, Thomas Münzel, Andreas Ziegler, François Cambien, Stefan Blankenberg, Laurence Tiret

*Corresponding author for this work
19 Citations (Scopus)


In humans, the fraction of X-linked genes with higher expression in females has been estimated to be 5% from microarray studies, a proportion lower than the 25% of genes thought to escape X inactivation. We analyzed 715 X-linked transcripts in circulating monocytes from 1,467 subjects and found an excess of female-biased transcripts on the X compared to autosomes (9.4% vs 5.5%, p<2×10 -5). Among the genes not previously known to escape inactivation, the most significant one was EFHC2 whose 20% of variability was explained by sex. We also investigated cis expression quantitative trait loci (eQTLs) by analyzing 15,703 X-linked SNPs. The frequency and magnitude of X-linked cis eQTLs were quite similar in males and females. Few genes exhibited a stronger genetic effect in females than in males (ARSD, DCX, POLA1 and ITM2A). These genes would deserve further investigation since they may contribute to sex pathophysiological differences.

Original languageEnglish
Issue number5
Pages (from-to)320-326
Number of pages7
Publication statusPublished - 11.2011


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