ArticleScience (New York, N.Y.)2023
The genetic architecture and evolution of the human skeletal form.
Article in Science (New York, N.Y.), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 76 citations in OpenAlex.
- Multi-organ imaging genetics: towards an integrated view of brain, body and brain diseases.Nature reviews. Neurology · 2026Review
- Genetic architecture of MRI-derived cervical spinal cord morphology reveals sensory-motor axis and systemic disease associations.Nature communications · 2026Article
- Inferring multi-organ genetic connections using imaging and clinical data through Mendelian randomization.Nature biomedical engineering · 2026Article
- Combined Letrozole and Growth Hormone Therapy in Late-Pubertal Males with Advanced Bone Age and Open Knee Physes.Children (Basel, Switzerland) · 2026Article
- Human genetics across levels of biological organization.Nature reviews. Genetics · 2026Review
- Genetic analysis of imaging-derived phenotypes.Nature reviews. Genetics · 2026Review
- Dissecting the genetic architecture of knee alignment reveals its contribution to osteoarthritis risk.medRxiv : the preprint server for health sciences · 2026Article
- Regionally specific and highly pleiotropic loci together mediate skeletal evolution in tropical and temperate house mice.Genetics · 2026Article
- Regional heterogeneity in phenotypic and genetic associations between bone and brain in humans.Nature communications · 2026Article
- Genomic approaches for understanding the evolution of the human brain.Nature neuroscience · 2026Review
- Genetics of skeletal proportions across two different populations.American journal of human genetics · 2026Article
- Deep learning-based precision phenotyping of spine curvature identifies novel genetic risk loci for scoliosis in the UK Biobank.NPJ digital medicine · 2026Article
- Genome-wide association study reveals genetic architecture and evolution of human retinal pigmentation.Science advances · 2026Article
- Final height prediction of girls at menarche: a combined model using left hand and wrist bone age, knee radiomic scores, and clinical characteristics.World journal of pediatrics : WJP · 2026Article
- Genetic Insights into Head-to-Body Ratios Via Deep Learning-Based Image Segmentation and Implications for Common Diseases.Nature communications · 2025Article
- Positive association between standing height and bone mineral density in adolescents aged 12-19: NHANES 2011-2018 : Author.BMC pediatrics · 2025Article
- Identification of novel vertebral development factors through UK Biobank candidate gene search and body imaging analysis.Communications biology · 2025Article
- Quantifying the impact of early life growth adversity on later life health.Communications medicine · 2025Article
- Cellular and genetic mechanisms that shape the development and evolution of tail vertebral proportion in mice and jerboas.Nature communications · 2025Article
- The shared genetic architecture between schizophrenia and common peripheral organ imaging phenotypes.Schizophrenia (Heidelberg, Germany) · 2025Article
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Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
Abstract
The human skeletal form underlies bipedalism, but the genetic basis of skeletal proportions (SPs) is not well characterized. We applied deep-learning models to 31,221 x-rays from the UK Biobank to extract a comprehensive set of SPs, which were associated with 145 independent loci genome-wide. Structural equation modeling suggested that limb proportions exhibited strong genetic sharing but were independent of width and torso proportions. Polygenic score analysis identified specific associations between osteoarthritis and hip and knee SPs. In contrast to other traits, SP loci were enriched in human accelerated regions and in regulatory elements of genes that are differentially expressed between humans and great apes. Combined, our work identifies specific genetic variants that affect the skeletal form and ties a major evolutionary facet of human anatomical change to pathogenesis.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.