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Chunk #19 — Results — eQTL analysis in different tissues

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Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.
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We investigated whether the previously-identified and all novel loci co-localized with Expression Quantitative Trait Loci (eQTLs). We used eQTLs from 44 Genotype-Tissue Expression (GTEx) tissues and kidney 32,33. Across all tissues, 186 of 367 sentinel SNPs were eQTLs in at least one tissue; at least one SNP in 213 of the same 367 loci was an eQTL. We determined for each tissue whether the number of eQTLs (either by sentinel SNP or by locus) was greater than expected by chance, where expectation was derived from a random sampling of SNPs and loci (Online Methods). We ranked the tissues by eQTL P-value, both for the sentinel SNP and locus analysis. We generally expect tissues with more eQTLs to overlap more SNP sets, and enrichment to be greater simply because of chance GWAS set overlap, especially when eQTLs in tissues relevant to the phenotype are also found in these tissues. To observe whether the enrichment visible for a given tissue is greater than expected relative to the total number of eQTLs it contains, we examined the relationship between P-value and total eQTL