The impact of sex on gene expression across human tissues

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.

Source: ScienceNOW - September 9, 2020 Category: Science Authors: Oliva, M., Munoz-Aguirre, M., Kim-Hellmuth, S., Wucher, V., Gewirtz, A. D. H., Cotter, D. J., Parsana, P., Kasela, S., Balliu, B., Vinuela, A., Castel, S. E., Mohammadi, P., Aguet, F., Zou, Y., Khramtsova, E. A., Skol, A. D., Garrido-Martin, D., Reverter, Tags: Genetics, Medicine, Diseases, Online Only special/r-articles Source Type: news