Fig. 7: Genetic causal effects of lung imaging traits and lung diseases.
From: Common genetic variation influencing the human lung imaging phenotypes

a The scatter plots illustrate the correlation and causality between lung radiomic features and 97 complex phenotypes. The top part of the figure shows the two sided P values of identified lead SNPs in 97 complex traits, while the bottom part displays the Mendelian randomization P values (two sided, using the IVW technique as our major model). The horizontal dashed lines indicate the Bonferroni-corrected P value threshold (0.05/308 for upper part and 0.05/99 for lower part, considering 308 loci identified in the BBJ and 99 LIDPs analyzed in the Mendelian randomization in BBJ). Different categories of diseases or phenotypes are marked with different colors. b From left to right, the forest plots display the specific Mendelian randomization results for COPD, ILD, NSCLC, and T2D with lung radiomic features. Light blue areas indicate first-order features, and light red areas indicate shape features. Data are presented as Mendelian randomization IVW estimates (beta) ± 95% CIs. The dots represent the beta values from the Mendelian randomization IVW results. The horizontal bars represent 95% CIs, with color and an asterisk indicating significance levels: red denotes nominal significance (P < 0.05), an asterisk indicates significance after Bonferroni’s correction (P < 3.91 × 10−4 for COPD and ILD, 0.05/128, considering 128 LIDPs analyzed in the MR analysis with COPD and ILD; P < 3.88 × 10−4 for NSCLC, 0.05/129, considering 129 LIDPs analyzed in the MR analysis with NSCLC; P < 5.05 × 10−4 for T2D, 0.05/99, considering 99 LIDPs analyzed in the MR analysis with T2D), and gray indicates nonsignificant correlations. The reported P-values were two-sided. The sample sizes were: COPD (meta-analysis: 10,060 cases/236,329 controls), ILD (meta-analysis: 1201 cases/252,729 controls), NSCLC (13,327 cases/13,328 controls), and T2D (45,383 cases/132,032 controls). Exact P values, effect sizes, and 95% CIs are provided in Supplementary Data 37-38. IVW inverse-variance weighted, COPD chronic obstructive pulmonary disease, ILD interstitial lung disease, NSCLC non-small cell lung cancer, T2D type 2 diabetes, UR right upper lobe, UL left upper lobe, CR right centre lobe, LR right lower lobe, LL left lower lobe, IQR InterquartileRange, MAD MeanAbsoluteDeviation, RMAD RobustMeanAbsoluteDeviation, RMS RootMeanSquared, CI confidence interval.