Influence of sex and genetic variability on expression of X-linked genes in human monocytes
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Influence of sex and genetic variability on expression of X-linked genes in human monocytes. / Castagné, Raphaële; Zeller, Tanja; Rotival, Maxime; Szymczak, Silke; Truong, Vinh; Schillert, Arne; Trégouët, David-Alexandre; Münzel, Thomas; Ziegler, Andreas; Cambien, François; Blankenberg, Stefan; Tiret, Laurence.
in: GENOMICS, Jahrgang 98, Nr. 5, 11.2011, S. 320-326.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Influence of sex and genetic variability on expression of X-linked genes in human monocytes
AU - Castagné, Raphaële
AU - Zeller, Tanja
AU - Rotival, Maxime
AU - Szymczak, Silke
AU - Truong, Vinh
AU - Schillert, Arne
AU - Trégouët, David-Alexandre
AU - Münzel, Thomas
AU - Ziegler, Andreas
AU - Cambien, François
AU - Blankenberg, Stefan
AU - Tiret, Laurence
N1 - Copyright © 2011 Elsevier Inc. All rights reserved.
PY - 2011/11
Y1 - 2011/11
N2 - 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.
AB - 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.
KW - Adult
KW - Aged
KW - Calcium-Binding Proteins/genetics
KW - Chromosomes, Human, X/genetics
KW - Female
KW - Genes, X-Linked
KW - Genetic Variation
KW - Genome-Wide Association Study
KW - Humans
KW - Male
KW - Middle Aged
KW - Monocytes/cytology
KW - Polymorphism, Single Nucleotide
KW - Quantitative Trait Loci
KW - Sex Factors
KW - Transcription, Genetic
KW - X Chromosome Inactivation
U2 - 10.1016/j.ygeno.2011.06.009
DO - 10.1016/j.ygeno.2011.06.009
M3 - SCORING: Journal article
C2 - 21763416
VL - 98
SP - 320
EP - 326
IS - 5
ER -