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Chunk #47 — Results — Agnostic scanning across GTEx tissues improves discovery

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Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics.
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SORT1 is a gene with strong evidence for a causal role in LDL-C levels, and as a consequence, is likely to affect risk for cardiovascular disease33. This gene is most actively regulated in liver (close to 50% of the expression level of this gene is determined by the genetic component) with the most significant S-PrediXcan association in liver (p-value ≈ 0, Z = −28.8), consistent with our prior knowledge of lipid metabolism. In this example, tissue specific results suggest a causal role of SORT1 in liver.