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Chunk #10 — Results — Functional analyses

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Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.
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From our expression Quantitative Trait locus (eQTL) analysis (GTEx), 59 of the 107 validated loci contain variants with eQTLs in at least one tissue (Supplementary Table 17); arterial tissue has the largest number of loci with eQTLs (Supplementary Fig. 7), with targeted in silico analysis showing six loci with eQTLs in arterial tissue (Supplementary Table 16). For example, the GTEx tibial artery eQTL in SF3A3 (rs4360494) shows strong in silico supporting evidence, including an arterial DNase I site within which the major C allele removes a predicted AP-2 binding site (Supplementary Fig. 8). Hence we prioritized this gene for in vitro functional analysis (see below).