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Chunk #59 — Materials and Methods — Convergence analysis

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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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Per trait we assessed all the SNPs that have been reported to be associated with that particular trait. We analyzed per trait all possible SNP-pairs. If a pair of SNPs was not in LD (r2<0.001) we assessed whether they affected the same gene in cis or trans. When using the trait-associated cis- and trans-eQTLs that had been identified when controlling the FDR at 0.05, we identified 7 unique pairs of SNPs that caused both the same phenotype and also affected the same gene(s). When using a somewhat more relaxed set of trans-eQTLs, identified when controlling the FDR at 0.5, we identified 18 unique pairs of SNPs that affect the same downstream gene.