Chunk #13 — Results — Biological convergence of cis- and trans-eQTLs

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Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.

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Many of these converging downstream genes make biological sense: three independent loci, associated with hemoglobin protein levels [37]–[39] and ß thalassemia susceptibility [40], significantly affect hemoglobin gamma G (HBG2) gene expression levels (each with p<1.0×10−23, Figure 5). For mean corpuscular volume (MCV, Figure 5) two unlinked MCV SNPs [41], [42] also affect HBG2 gene expression levels in trans (at FDR 0.05), while other pairs of MCV SNPs converge on ESPN, VWCE, PDZK1IP1 and RAP1GAP.