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. Author manuscript; available in PMC: 2020 May 11.
Published in final edited form as: Circulation. 2018 Nov 11;139(4):489–501. doi: 10.1161/CIRCULATIONAHA.118.035774

Table 3.

Replication of suggestive signals from genetic association analyses for nonischemic cardiomyopathy in UK Biobank.

UK Biobank
(n cases=1,816)
BioVU Study
(n cases=226) 
GRADE
(n cases=260)
Esslinger et al. (2017)
(n cases=2,796)

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)