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Oliva, Meritxell; Muñoz-Aguirre, Manuel; Kim-Hellmuth, Sarah; Wucher, Valentin; Gewirtz, Ariel D H; Cotter, Daniel J; Parsana, Princy; Kasela, Silva; Balliu, Brunilda; Viñuela, Ana; Castel, Stephane E; Mohammadi, Pejman; Aguet, François; Zou, Yuxin; Khramtsova, Ekaterina A; Skol, Andrew D; Garrido-Martín, Diego; Reverter, Ferran; Brown, Andrew; Evans, Patrick; Gamazon, Eric R; Payne, Anthony; Bonazzola, Rodrigo; Barbeira, Alvaro N; Hamel, Andrew R; Martinez-Perez, Angel; Soria, José Manuel; Pierce, Brandon L; Stephens, Matthew; Eskin, Eleazar; Dermitzakis, Emmanouil T; Segrè, Ayellet V; Im, Hae Kyung; Engelhardt, Barbara E; Ardlie, Kristin G; Montgomery, Stephen B; Battle, Alexis J; Lappalainen, Tuuli; Guigó, Roderic; Stranger, Barbara E
Science (American Association for the Advancement of Science), 09/2020, Letnik: 369, Številka: 6509Journal Article
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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in: SICRIS
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