Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland.
Genome Res. 2012 Dec;22(12):2368-75. doi: 10.1101/gr.134981.111. Epub 2012 Sep 7.
Human regulatory variation, reported as expression quantitative trait loci (eQTLs), contributes to differences between populations and tissues. The contribution of eQTLs to differences between sexes, however, has not been investigated to date. Here we explore regulatory variation in females and males and demonstrate that 12%-15% of autosomal eQTLs function in a sex-biased manner. We show that genes possessing sex-biased eQTLs are expressed at similar levels across the sexes and highlight cases of genes controlling sexually dimorphic and shared traits that are under the control of distinct regulatory elements in females and males. This study illustrates that sex provides important context that can modify the effects of functional genetic variants.
人类调控变异，以表达数量性状基因座 (eQTLs) 的形式报告，导致了不同人群和组织之间的差异。然而，迄今为止，eQTLs 对性别差异的贡献尚未得到研究。在这里，我们探索了女性和男性的调控变异，并证明了 12%-15%的常染色体 eQTLs 以性别偏向的方式发挥作用。我们表明，具有性别偏向 eQTLs 的基因在两性之间的表达水平相似，并强调了控制性别二态性和共享特征的基因的情况，这些基因受到女性和男性不同调控元件的控制。这项研究表明，性别提供了重要的背景，可以改变功能遗传变异的影响。
