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Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/197187
The impact of sex on gene expression across human tissues
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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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OLIVA, Meritxell, et al. The impact of sex on gene expression across human tissues. Science. 2020. Vol. 369, num. 6509. ISSN 0036-8075. [consulted: 7 of June of 2026]. Available at: https://hdl.handle.net/2445/197187