Identification of novel vertebral development factors through UK Biobank candidate gene search and body imaging analysis
Numerical variations and transitional anatomy in the human vertebral column represent a significant yet understudied aspect of skeletal development with potential effects on multiple physiological systems. Utilising UK Biobank data, we integrated genetic analysis with deep learning-based multi-modal body imaging to investigate genetic factors associated with thoracic and lumbar spine anatomy. We identified three key genes, GPC3, NR6A1, and VRTN, associated with numerical variations of the lumbar vertebrae and ribs, with VRTN reported for the first time in humans as influencing vertebral development. Our findings reveal significant associations between these genetic variants, vertebral and rib anomalies, and increased prevalence of chronic pain. This study highlights the genetic underpinnings of vertebral development and demonstrates the utility of combining imaging and genetic data to uncover skeletal variation and its health implications for population health.
Citation
@article{sun#2025,
author = {Sun\#, Zhuopin and Han\#, Jiru and G Fearnley, Liam and
McGlinn, Edwina and Bahlo, Melanie},
title = {Identification of Novel Vertebral Development Factors Through
{UK} {Biobank} Candidate Gene Search and Body Imaging Analysis},
journal = {Communications Biology},
volume = {8},
date = {2025-11-19},
url = {https://doi.org/10.1038/s42003-025-09021-8},
doi = {10.1038/s42003-025-09021-8},
langid = {en},
abstract = {Numerical variations and transitional anatomy in the human
vertebral column represent a significant yet understudied aspect of
skeletal development with potential effects on multiple
physiological systems. Utilising UK Biobank data, we integrated
genetic analysis with deep learning-based multi-modal body imaging
to investigate genetic factors associated with thoracic and lumbar
spine anatomy. We identified three key genes, GPC3, NR6A1, and VRTN,
associated with numerical variations of the lumbar vertebrae and
ribs, with VRTN reported for the first time in humans as influencing
vertebral development. Our findings reveal significant associations
between these genetic variants, vertebral and rib anomalies, and
increased prevalence of chronic pain. This study highlights the
genetic underpinnings of vertebral development and demonstrates the
utility of combining imaging and genetic data to uncover skeletal
variation and its health implications for population health.}
}