6533b834fe1ef96bd129d58f

RESEARCH PRODUCT

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

François CambienSilke SzymczakMaxime RotivalStefan BlankenbergThomas MünzelVinh TruongArne SchillertDavid-alexandre TrégouëtTanja ZellerAndreas ZieglerRaphaële CastagnéLaurence Tiret

subject

AdultMaleTranscription GeneticMicroarrayQuantitative Trait LociSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideMonocytesX-inactivationSex FactorsGenes X-LinkedX Chromosome InactivationGene expressionGeneticsHumansGenetic variabilityGeneAgedGeneticsChromosomes Human XAutosomeCalcium-Binding ProteinsGenderGenetic VariationMiddle AgedExpression Quantitative Trait LocusExpression quantitative trait lociFemaleGene expressionGenome-Wide Association Study

description

Abstract 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  −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.

yearjournalcountryeditionlanguage
2011-11-01Genomics
https://doi.org/10.1016/j.ygeno.2011.06.009