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. 2023 Oct 6;33(2):198–210. doi: 10.1093/hmg/ddad172

Table 2.

Top phenome-wide signals in main analysis and their respective effect sizes across conditions.

Phenotype ORa 95% CI lowera 95% CI uppera P N Cases N Controls
All adjusted for smoking status b
Cancer of bronchus (lung) 1.114 1.073 1.157 1.78E−08 2926 391 072
Emphysema 1.127 1.079 1.176 5.56E−08 2236 356 292
Cancer within the respiratory system 1.100 1.062 1.139 8.55E−08 3397 391 072
Obstructive chronic bronchitis 1.055 1.034 1.076 1.70E−07 10 649 356 292
Chronic bronchitis 1.052 1.032 1.074 4.24E−07 10 856 356 292
Chronic airway obstruction 1.046 1.028 1.065 8.40E−07 13 261 356 292
All unadjusted for smoking
Cancer of bronchus (lung) 1.099 1.059 5.633 6.79E−07 2945 392 431
Emphysema 1.108 1.062 10.633 2.56E−06 2252 357 462
Cancer within the respiratory system 1.087 1.050 6.633 2.31E−06 3419 392 431
Obstructive chronic bronchitis 1.039 1.019 7.633 1.39E−04 10 747 357 462
Chronic bronchitis 1.036 1.017 8.633 2.92E−04 10 956 357 462
Chronic airway obstruction 1.032 1.014 9.633 4.19E−04 13 372 357 462
Current smokers
Cancer of bronchus (lung) 1.222 1.144 1.306 2.97E−09 1007 38 856
Emphysema 1.170 1.090 1.257 1.40E−05 847 33 802
Cancer within the respiratory system 1.206 1.131 1.285 9.53E−09 1081 38 856
Obstructive chronic bronchitis 1.098 1.060 1.137 1.65E−07 3802 33 802
Chronic bronchitis 1.095 1.058 1.134 2.90E−07 3846 33 802
Chronic airway obstruction 1.089 1.053 1.126 5.71E−07 4179 33 802
Former smokers
Cancer of bronchus (lung) 1.072 1.016 1.130 1.12E−02 1423 137 624
Emphysema 1.090 1.027 1.156 4.44E−03 1161 123 841
Cancer within the respiratory system 1.066 1.015 1.120 1.11E−02 1654 137 624
Obstructive chronic bronchitis 1.051 1.022 1.081 5.57E−04 5195 123 841
Chronic bronchitis 1.050 1.021 1.080 6.16E−04 5270 123 841
Chronic airway obstruction 1.044 1.017 1.071 1.16E−03 6312 123 841
Ever smokers c
Cancer of bronchus (lung) 1.109 1.065 1.156 8.55E−07 2430 176 468
Emphysema 1.100 1.051 1.150 3.86E−05 2008 157 632
Cancer within the respiratory system 1.099 1.057 1.143 1.92E−06 2735 176 468
Obstructive chronic bronchitis 1.048 1.026 1.071 2.14E−05 8997 157 632
Chronic bronchitis 1.047 1.024 1.069 3.28E−05 9116 157 632
Chronic airway obstruction 1.042 1.021 1.063 7.11E−05 10 491 157 632
Never smokers
Cancer of bronchus (lung) 1.043 0.954 1.141 3.53E−01 496 214 592
Emphysema 1.154 1.008 1.322 3.83E−02 228 198 649
Cancer within the respiratory system 1.032 0.955 1.114 4.28E−01 662 214 592
Obstructive chronic bronchitis 0.983 0.937 1.032 4.89E−01 1652 198 649
Chronic bronchitis 0.980 0.935 1.027 3.95E−01 1740 198 649
Chronic airway obstruction 0.996 0.960 1.035 8.49E−01 2770 198 649

OR, Odds ratio from the logistic regression estimates of the wGRS effects on each phenotype; CI, Confidence interval; P, significance value of the wGRS estimate; N, sample Number as cases and controls. Italicized text indicates different groups. All analyses are adjusted for age at recruitment, genetic sex, and first ten genetic principal components.

aThe OR was calculated as the exponent of the regression beta, the 95% CI lower was calculated as: exp(beta − 1.96*SE); while the 95% CI upper was calculated as: exp(beta + 1.96*SE). The ORs and CIs were then transformed by exponentiating them to the power of 1 SD of the wGRS.

bN = 1435 excluded for ‘prefer not say’ in smoking status.

cEver smokers defined by combining current and former smokers’ groups.