Article
Mapping rare protein-coding variants on multi-organ imaging traits.
Nature communications - 23 Dec 2025
Fan Yijun, Chen Jie, Fan Zirui, Chirinos Julio, Stein Jason L, Sullivan Patrick F, Wang Rujin, Nadig Ajay, Zhang David Y, Huang Shuai, Jiang Zhiwen, Guan Peter Yi, Qian Xinjie, Li Ting, Li Haoyue, Sun Zehui, Ritchie Marylyn D, O'Brien Joan M, Witschey Walter, Rader Daniel J, Li Tengfei, Zhu Hongtu, Zhao Bingxin
Abstract excerpt
Human organ structure and function are important endophenotypes for clinical outcomes. Genome-wide association studies (GWAS) have identified numerous common variants associated with phenotypes derived from magnetic resonance imaging (MRI) of the brain and body. However, the role of rare protein-coding variations affecting organ size and function is largely unknown. Here we present an exome-wide association study...
Topics
- Humans
- Brain
- Exome
- Genome-Wide Association Study
- Magnetic Resonance Imaging
- Organ Size
- Phenotype
- Polymorphism, Single Nucleotide
- Quantitative Trait Loci