TY - JOUR
T1 - The impact of sex on gene expression across human tissues
AU - GTEx Consortium
AU - Oliva, Meritxell
AU - Muñoz-Aguirre, Manuel
AU - Kim-Hellmuth, Sarah
AU - Wucher, Valentin
AU - Gewirtz, Ariel D.H.
AU - Cotter, Daniel J.
AU - Parsana, Princy
AU - Kasela, Silva
AU - Balliu, Brunilda
AU - Viñuela, Ana
AU - Castel, Stephane E.
AU - Mohammadi, Pejman
AU - Aguet, François
AU - Zou, Yuxin
AU - Khramtsova, Ekaterina A.
AU - Skol, Andrew D.
AU - Garrido-Martín, Diego
AU - Reverter, Ferran
AU - Brown, Andrew
AU - Evans, Patrick
AU - Gamazon, Eric R.
AU - Payne, Anthony
AU - Bonazzola, Rodrigo
AU - Barbeira, Alvaro N.
AU - Hamel, Andrew R.
AU - Martinez-Perez, Angel
AU - Soria, José Manuel
AU - Pierce, Brandon L.
AU - Stephens, Matthew
AU - Eskin, Eleazar
AU - Dermitzakis, Emmanouil T.
AU - Segrè, Ayellet V.
AU - Im, Hae Kyung
AU - Engelhardt, Barbara E.
AU - Ardlie, Kristin G.
AU - Montgomery, Stephen B.
AU - Battle, Alexis J.
AU - Lappalainen, Tuuli
AU - Guigó, Roderic
AU - Stranger, Barbara E.
N1 - Publisher Copyright:
Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.
PY - 2020/9/11
Y1 - 2020/9/11
N2 - Many complex human phenotypes exhibit sex-differentiated characteristics. However, the molecular mechanisms underlying these differences remain largely unknown. We generated a catalog of sex differences in gene expression and in the genetic regulation of gene expression across 44 human tissue sources surveyed by the Genotype-Tissue Expression project (GTEx, v8 release). We demonstrate that sex influences gene expression levels and cellular composition of tissue samples across the human body. A total of 37% of all genes exhibit sex-biased expression in at least one tissue. We identify cis expression quantitative trait loci (eQTLs) with sex-differentiated effects and characterize their cellular origin. By integrating sex-biased eQTLs with genome-wide association study data, we identify 58 gene-trait associations that are driven by genetic regulation of gene expression in a single sex. These findings provide an extensive characterization of sex differences in the human transcriptome and its genetic regulation.
AB - Many complex human phenotypes exhibit sex-differentiated characteristics. However, the molecular mechanisms underlying these differences remain largely unknown. We generated a catalog of sex differences in gene expression and in the genetic regulation of gene expression across 44 human tissue sources surveyed by the Genotype-Tissue Expression project (GTEx, v8 release). We demonstrate that sex influences gene expression levels and cellular composition of tissue samples across the human body. A total of 37% of all genes exhibit sex-biased expression in at least one tissue. We identify cis expression quantitative trait loci (eQTLs) with sex-differentiated effects and characterize their cellular origin. By integrating sex-biased eQTLs with genome-wide association study data, we identify 58 gene-trait associations that are driven by genetic regulation of gene expression in a single sex. These findings provide an extensive characterization of sex differences in the human transcriptome and its genetic regulation.
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U2 - 10.1126/science.aba3066
DO - 10.1126/science.aba3066
M3 - Article
C2 - 32913072
AN - SCOPUS:85090818936
SN - 0036-8075
VL - 369
JO - Science (New York, N.Y.)
JF - Science (New York, N.Y.)
IS - 6509
ER -