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Chunk #17 — 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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We also look for association of our validated sentinel SNVs with metabolomic signatures. Three SNVs within the NOX4, KCNH4 and LHFPL2 loci show significant associations (family-wise error rate < 5%) with lipoprotein sub-fractions from 1H Nuclear Magnetic Resonance (NMR) spectroscopy analysis of 2,000 Airwave study samples (Supplementary Tables 20 and 21). The results for these variants suggest a link between BP regulation and lipid metabolism. Eleven SNVs (including at LHFPL2 locus) show association (family wise error rate < 5%) with metabolites in blood or urine from the publicly available “Metabolomics GWAS Server” resource based on mass spectrometry22,23 (Supplementary Table 21), including sugar acids, sphingolipids, fatty acids, glycerophospholipids, organic acids and benzene derivatives.