Properties of All Liver eQTLs

Abstract

<div><p>(A) Distribution of all significant liver eQTLs across the genome in 2-cM bins. A total of 6,676 significant eQTLs were realized, representing 4,998 liver transcripts. Hotspots of nonrandom eQTL colocalization are clearly evident.</p><p>(B) Distribution of eQTLs with significant sex-specific effects. A total of 1,166 eQTLs representing 1,044 transcripts show an eQTL hotspot on Chromosome 5.</p><p>(C) Properties of eQTLs at increasing significance levels. As the threshold for significant linkage increases (<i>p</i>-value decreases, or LOD score increases), the proportion of <i>cis</i>-eQTLs (black) increases. The fraction of all eQTLs with sex effects (red) and <i>cis</i>-eQTLs with sex effects (blue) remains relatively constant at increasing thresholds. The dashed line indicates the genome-wide significance threshold (<i>p</i> < 5 × 10⁻⁵; genome-wide <i>p</i> < 0.05).</p><p>(D) Properties of sex-specific eQTLs at increasing significance levels. For eQTLs with significant sex effects, as with all eQTLs, the proportion of <i>cis</i>-eQTLs (black) increases and <i>trans</i> (blue) decreases as the threshold for significance increases. At the genome-wide threshold for significance (dashed line), over 70% of eQTLs with significant sex effects are <i>trans.</i></p></div