Table 3.
UK Biobank (n cases=1,816) |
BioVU Study (n cases=226) |
GRADE (n cases=260) |
Esslinger et al.
(2017) (n cases=2,796) |
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Rsid | Chr | Pos | Nearest Gene | RA/ NRA | RAF | OR (95% CI) | P-value | RAF | OR (95% CI) | P-value | RAF | OR (95% CI) | P-value | RAF | OR (95% CI) | P-value |
rs2234962 | 10 | 121429633 | BAG3 | T/C | 0.78 | 1.30 (1.19–1.41) | 2.32×10−9 | 0.80 | 1.49 (1.14–1.94) | 3.12×10−3 | 0.79 | 1.39 (1.08–1.80) | 0.01 | 0.81 | 1.61 (1.48–1.77) | 1.70×10−25 |
rs2634071 | 4 | 111669220 | PITX2 | T/C | 0.16 | 1.25 (1.15–1.36) | 1.06×10−7 | 0.17 | 1.05 (0.82–1.35) | 0.68 | 0.17 | 1.13 (0.87–1.46) | 0.36 | - | - | - |
rs6843082* | 4 | 111718067 | PITX2 | G/A | 0.19 | 1.24 (1.14–1.34) | 1.09×10−7 | 0.21 | 0.93 (0.73–1.18) | 0.53 | 0.20 | 1.13 (0.89–1.43) | 0.33 | 0.23 | 1.11 (1.03–1.20) | 7.52×10−3 |
rs12138073 | 1 | 16354958 | CLCNKA | T/C | 0.10 | 1.29 (1.17–1.42) | 5.35×10−7 | 0.10 | 1.06 (0.78–1.44) | 0.72 | 0.10 | 1.19 (0.88–1.62) | 0.26 | - | - | - |
rs34471231† | 1 | 16356522 | CLCNKA | G/A | 0.10 | 1.29 (1.17–1.42) | 6.58×10−7 | 0.10 | 1.05 (0.77–1.43) | 0.74 | 0.10 | 1.19 (0.88–1.62) | 0.26 | 0.10 | 1.20 (1.08–1.34) | 9.61×10−4 |
rs10927875 | 1 | 16299312 | ZBTB17 | C/T | 0.68 | 1.15 (1.07–1.24) | 1.15×10−4 | 0.68 | 1.22 (0.98–1.50) | 0.07 | 0.68 | 1.18 (0.96–1.47) | 0.12 | 0.69 | 1.30 (1.21–1.40) | 8.11×10−13 |
Abbreviations: NICM=nonischemic cardiomyopathy; Chr=chromosome; Pos=hg19 position; RA=NICM risk allele; NRA= NICM non-risk allele; RAF= NICM risk allele frequency; OR=odds ratio; 95% CI=95% confidence interval
rs6843082 is present in the exome chip analysis from Esslinger et al. (2017)17 and in LD with rs2634071 in the UK Biobank (r2 = 0.82)
rs34471231 is present in the exome chip analysis from Esslinger et al. (2017)17 and in LD with rs12138073 in the UK Biobank (r2 = 0.99)