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Chunk #20 — Results — eQTL analyses: genome-wide SNPs and the peripheral blood transcriptome

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Heritability and genomics of gene expression in peripheral blood.
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Of 9,640 genes with local eQTLs in NTR (q < 0.01), 9,148 (94.9) replicated (q < 0.1) in NESDA (with the less-stringent replication q threshold to allow for winner’s curse attenuation). Of genes with the strongest local eQTL evidence in NTR (q < 0.001), 6,756 of 6,941 genes (97.3%) replicated in NESDA. There was strong overlap (P = 1×10−180) of genes with local eQTLs in the full NTR sample with the same gene having a local eQTL in a meta-analysis of HapMap LCL studies.19 For genes with local eQTLs (q < 0.1) in the LCL meta-analysis, 56.1% (2,417/4,306) also had significant local eQTLs in NTR. Genes that replicated had smaller meta-analysis q values (P=1×10−18), along with higher expression (P=2×10−119), and higher heritability (P=8×10−131) in NTR. The lack of overlap among smaller HapMap samples is likely an example of the “winner’s curse”: in the larger Zeller et al.15 and Fehrmann et al.20 studies, among genes annotated in all three studies, replication in NTR was 66.8% (2,799/4,189) and 77.2% (3,404/4,412) (Figure 4b). Similarly, for local gene-SNP pairs with q<0.05 from the peripheral