The impact of sex on gene expression across human tissues
Oliva M, Muñoz-Aguirre M, Kim-Hellmuth S, et al. The impact of sex on gene expression across human tissues. Science. 2020;369(6509):eaba3066.
Corresponding author. Email: meritxellop@uchicago.edu (M.O.); barbara.stranger@northwestern.edu (B.E.S.)
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.
許多複雜的人類表型表現出性別差異的特徵。然而，這些差異背後的分子機制在很大程度上仍然是未知之數。我們通過基因型組織表達項目（GTEx，v8 版本）調查了44個人類組織來源中，基因表達和基因表達的遺傳調控中的性別差異。我們證明了性別影響人體組織樣本的基因表達水平和細胞組成。總共有37%的基因在至少一個組織中表現出有性別偏向的表達。我們鑑定了具有性別差異效應的順式表達數量性狀基因座（eQTLs），並對其細胞來源進行了鑑定。通過整合性別偏向的eQTLs和全基因組關聯研究數據，我們確定了58個基因-性狀關聯，這些關聯是由單一性別中基因表達的遺傳調控驅動的。這些發現提供了人類轉錄組中性別差異及其遺傳調控的廣泛表徵。
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