Identification of novel vertebral development factors through UK Biobank driven genetic and body imaging analysis reveals markers for back pain
Sun, Z.; Han, J.; Fearnley, L. G.; McGlinn, E.; Bahlo, M.
Show abstract
Numerical variations and transitional anatomy in the human vertebral column, observed in up to 36% of individuals, 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. TeaserIntegration of genetic and imaging data uncovers novel genetic factors in human vertebral variations and their link to chronic pain.
Matching journals
The top 7 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- The gSOS Polygenic Score is Associated with Bone Density and Fracture Risk in Childhood 94%
- Genes with Specificity for Expression in the Round Cell Layer of the Growth Plate are Enriched in GWAS of Human Height 93%
- Dmp1Cre-directed knockdown of PTHrP in murine decidua is associated with increased bone width and a life-long increase in strength specific to male progeny 93%
Similar papers in this journal
- A genome-wide association study finds genetic variants associated with neck or shoulder pain in UK Biobank 95%
- Genome-wide association study of body fat distribution traits in Hispanics/Latinos from the HCHS/SOL Study 93%
- Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome 93%
Similar papers in this journal
Similar papers in this journal
- Enhancing Wnt signaling lowers fracture incidence in a severe mouse model of Osteogenesis Imperfecta 93%
- PPARG in osteocytes is essential for sclerostin expression, bone mass, marrow adiposity and TZD-induced bone loss 91%
- Epigenetic and transcriptional regulation of osteoclastogenesis in the pathogenesis of skeletal diseases: a protocol for a systematic review 91%
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.