Common genetic variation influencing the human lung imaging phenotypes

Meng Zhu, Lingbin Du, Lei Shi, Chen Ji, Chen Zhu, Ci Song, Lili Wu, Lingying Zhu, Jing Lu, Qun Zhang, Feiyun Wu, Chen Jin, Yuanlin Mou, Qiao Li, Jiahao Zhang, Mingxuan Zhu, Jiaying Cai, Caochen Zhang, Yating Fu, Linnan Gong, Dong Hang, Juncheng Dai, Yue Jiang, Guangfu Jin, Zhibin Hu, Hongxia Ma (), Xiangdong Cheng () and Hongbing Shen ()
Additional contact information
Meng Zhu: Nanjing Medical University
Lingbin Du: Chinese Academy of Sciences
Lei Shi: Chinese Academy of Sciences
Chen Ji: Nanjing Medical University
Chen Zhu: Nanjing Medical University
Ci Song: Nanjing Medical University
Lili Wu: Taizhou Cancer Hospital
Lingying Zhu: Taizhou Cancer Hospital
Jing Lu: the First Affiliated Hospital of Nanjing Medical University
Qun Zhang: the First Affiliated Hospital of Nanjing Medical University
Feiyun Wu: the First Affiliated Hospital of Nanjing Medical University
Chen Jin: Nanjing Medical University
Yuanlin Mou: Nanjing Medical University
Qiao Li: Nanjing Medical University
Jiahao Zhang: Nanjing Medical University
Mingxuan Zhu: Nanjing Medical University
Jiaying Cai: Nanjing Medical University
Caochen Zhang: Nanjing Medical University
Yating Fu: Nanjing Medical University
Linnan Gong: Nanjing Medical University
Dong Hang: Nanjing Medical University
Juncheng Dai: Nanjing Medical University
Yue Jiang: Nanjing Medical University
Guangfu Jin: Nanjing Medical University
Zhibin Hu: Nanjing Medical University
Hongxia Ma: Nanjing Medical University
Xiangdong Cheng: Chinese Academy of Sciences
Hongbing Shen: Nanjing Medical University

Nature Communications, 2025, vol. 16, issue 1, 1-17

Abstract: Abstract Lung structures are critical for gas exchange and contribute to the pathogenesis of respiratory diseases, exhibiting notable lobe-specific heterogeneity. To investigate their genetic basis, we apply a deep-learning AI system and Pyradiomics to define lobe-specific lung CT imaging phenotypes, conducting genome-wide analyses in 35,469 participants from the Lung Imaging Genomics Initiative in China. We identify 36 loci associated with voxel intensities and 138 loci linked to three-dimensional shape. Functional annotation reveals significant enrichment of relevant genes in pathways regulating early fetal lung development and loci enriched in fetal lung regulatory elements. Genetic correlations are identified between lung structures and chronic respiratory diseases as well as lung function, with a number of loci showing colocalization. Mendelian randomization analyses suggest a causal role of lung structures in chronic lung diseases and extrapulmonary traits. This study provides new insights into the genetic architecture of lung structures and their links to diverse clinical outcomes.

Date: 2025
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DOI: 10.1038/s41467-025-64571-z

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