Chunk #8 — Results — Replication and meta-analysis with the UK Biobank dataset

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Discovery of novel heart rate-associated loci using the Exome Chip.

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Table 1Heart rate-associated loci identified from Exome Chip analysisSNVLocusChr:PosEAEAF NdiscoveryBETA-RR (SE) PdiscoveryBETA-HR (SE) Preplication Pcombined(A) Five unreported novel loci rs17853159a TESK2 1:45810865A0.07104 452−6.03 (1.20)5.02 × 10−70.31 (0.08)9.55 × 10−54.09 × 10−10 rs3087866a DALRD3 3:49054692T0.25104 4523.29 (0.72)4.92 × 10−6−0.31 (0.05)7.06 × 10−102.09 × 10−14 rs1635852 JAZF1 7:28189411C0.50104 4522.96 (0.62)2.04 × 10−6−0.15 (0.04)4.10 × 10−46.97 × 10−9 rs10857472a C10orf71 10:50534599A0.45104 452−2.97 (0.63)2.11 × 10−60.16 (0.04)1.49 × 10−42.21 × 10−9 rs3793706a,b SEC31B 10:102269085A0.22104 4523.52 (0.75)2.54 × 10−6−0.19 (0.05)2.06 × 10−43.72 × 10−9(B) Four loci validated in our study and also recently published in the UK Biobank study rs709209a RNF207 1:6278414G0.35104 452−3.30 (0.66)4.94 × 10−70.27 (0.04)2.14 × 10−95.44 × 10−15 rs6795970a SCN10A 3:38766675A0.40104 4522.97 (0.64)3.10 × 10−6−0.24 (0.04)1.81 × 10−82.73 × 10−13 rs4282331 5p13.3 5:30881510G0.42104 452−3.56 (0.63)2.03 × 10−80.26 (0.04)2.97 × 10−93.34 × 10−16 rs12004a KDELR3 22:38877461G0.30104 4523.30 (0.68)1.24 × 10−6−0.31 (0.05)4.92 × 10−114.04 × 10−16Due to the inverse relationship between R-R interval and HR the opposite beta directions do relate to concordant directions of effect between discovery and replication. SNV, single-nucleotide variant; Chr:Pos, Chromosome:Position based on HG build 19; EA, effect allele; EAF,