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Genetic Insights into Head-to-Body Ratios Via Deep Learning-Based Image Segmentation and Implications for Common
Wei Shi1, Shan-Shan Dong1, Ren-Jie Zhu1
1Biomedical Informatics & Genomics Center, Key Laboratory of Biomedical Information Engineering of Ministry of Education, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, Shaanxi, P.R. China.
Nature Communications
|December 24, 2025
Summary
This study explores head-to-body ratios (HBRs), revealing their genetic basis and links to various diseases. These anthropometric traits are crucial for understanding human development and health risks.
Area of Science:
- Genetics
- Anthropometry
- Human Evolution
Background:
- Head-to-body ratios (HBRs) are key anthropometric traits influencing human growth, development, and disease susceptibility.
- The genetic underpinnings and broader implications of HBRs remain significantly understudied.
Purpose of the Study:
- To investigate the genetic architecture of HBRs using deep learning and genome-wide association studies.
- To explore the association of HBRs with various human diseases and their evolutionary significance.
Main Methods:
- Applied deep learning to 38,202 whole-body DXA images from the UK Biobank to derive 10 HBR phenotypes.
- Conducted genome-wide association analyses (GWAS) to identify significant genetic loci associated with HBRs.
- Utilized functional annotations, polygenic risk scores, Mendelian randomization, and evolutionary analyses.
Main Results:
- Identified 245 significant genetic loci associated with HBRs, with heritability estimates between 25% and 43%.
- Prioritized genes involved in HBRs are enriched in skeletal chondrocytes and brain oligodendrocytes.
- Demonstrated significant associations between HBRs and risks for cardiovascular, metabolic, musculoskeletal, and neuropsychiatric diseases.
Conclusions:
- HBRs possess a substantial genetic basis and are linked to diverse health outcomes, positioning them as valuable health biomarkers.
- Evolutionary analyses suggest HBR-associated variants are conserved and enriched in regions impacting human brain development.
- This research provides novel insights into the genetic architecture and evolutionary importance of HBRs in human health.
