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Chunk #4 — Results — Novel BP loci in GERA and meta-analyses with ICBP and UKB

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Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.
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Of the 75 identified loci, 36 replicated previous GWAS findings. Of the remaining 39 novel loci (Figure 3), 25 were strictly replicated (P≤0.00067, Bonferroni correction for 75=39+36 SNPs – see Online Methods) in 221,477 individuals from the International Consortium on Blood Pressure (ICBP; HapMap summary statistics augmented to 1000 Genomes Project; Online Methods; Supplementary Figure 5)17 and UK Biobank (UKB; imputed additionally using UK10K)27). Among the remaining 14 loci, 8 had suggestive significance (P≤0.01), and one X chromosome SNP was unavailable for replication. All SNPs of at least suggestive significance (P≤0.05) had effects in the same direction as in GERA, and had no significant heterogeneity among the GERA race/ethnicity groups or between GERA and/or ICBP and/or UKB (Figure 3 and Supplementary Table 3), giving further credibility that these loci are also true-positive findings. Of note, ICBP alone poorly replicated novel SNPs (only 3 SNPs met Bonferroni correction in ICBP alone), although the SNPs were highly enriched for small P-values. These results emphasize the importance of large replication cohorts.