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

*Korrespondierende/r Autor/-in für diese Arbeit
19 Zitate (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.

Seiten (von - bis)320-326
PublikationsstatusVeröffentlicht - 11.2011


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