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The impact of sex on gene expression across human tissues

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Kim-Hellmuth,  Sarah
RG Statistical Genetics, Max Planck Institute of Psychiatry, Max Planck Society;

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Citation

Oliva, M., Munoz-Aguirre, M., Kim-Hellmuth, S., Wucher, V., Gewirtz, A. D. H., Cotter, D. J., et al. (2020). The impact of sex on gene expression across human tissues. SI, 369(6509): eaba3066, pp. 1331-+. doi:10.1126/science.aba3066.


Cite as: http://hdl.handle.net/21.11116/0000-0008-BC17-B
Abstract
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.