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Chunk #28 — Results — Regulatory variants at HR loci

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Discovery of novel heart rate-associated loci using the Exome Chip.
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In the 21 loci from the previously published GWAS (12), we identified significant chromatin contacts for the regulatory SNVs of 18 loci. We found CALCRL, TTN, HTR2B, PLD1 and CHRM2 as strongest interactors at the TFPI, CCDC141, B3GNT7, FNDC3B and CHRM2 loci, respectively, out of these only CALCRL is in LD (r2 > 0.8) with the lead SNV. The previous study (12) functionally tested 31 candidate genes, they found 20 of them to have an HR phenotype in either Drosophila melanogaster or Danio rerio experiments. All five of the strongest interactor genes were amongst the 20 genes with an HR phenotype.