用自监督学习从骨密度扫描中提取全身健康风险信号,效果优于传统方法。
Self-supervised DXA representations encode multi-system disease risk, biological aging and heritability
- 通过预测潜在表征而非重建像素,训练出可捕捉系统性健康的模型LeDXA。
- 在4.3年随访中,对髋膝关节炎和2型糖尿病的发病预测准确率显著提升,最高风险组占比达66%。
- 模型能估算生物年龄差距,与死亡风险相关,且结果受激素治疗影响,具可调节性。
全身双能X射线吸收测定(DXA)扫描常规用于测量骨密度和体成分分布,但其空间结构常被忽视。本文提出基于联合嵌入预测架构(JEPA)的LeDXA模型,通过自监督学习从11,540张未标注的人类表型项目扫描图中训练,无需像素重建。该模型在47,400张外部英国生物银行(UKBB)扫描上验证,尽管训练图像量仅为DINOv3的约1/15万、参数量少近40倍,仍超越传统扫描指标和DINOv3,在跨队列疾病与生物标志物预测中表现更优。中位4.3年随访期内,对新发疾病预测优于表格化DXA指标,尤其在髋膝关节病和2型糖尿病中提升显著;髋关节病中,66%的新发病例集中于高风险四分位组,高于表格指标的41%。模型外推预测的时序年龄相关系数r=0.88,平均绝对误差2.90年;生物年龄差距越大,疾病负担越重,最老态组死亡风险高出45%。女性接受激素替代治疗后,该差距下降,提示其可调控性。全基因组关联分析复现了多数已知体成分与骨密度位点,且LeDXA嵌入的遗传力高于DINOv3。研究揭示了传统读数忽略的诊断潜力,仅需少量数据与低算力即可实现。
原文摘要 · Abstract (English)
Whole-body dual-energy X-ray absorptiometry (DXA) scans are routinely acquired to measure bone density and regional body composition, leaving their spatial structure largely unused. Here, we show that self-supervised learning (SSL) can convert raw DXA images into representations of systemic health. We introduce LeDXA, a vision model based on a joint-embedding predictive architecture (JEPA) that learns by predicting latent representations rather than reconstructing pixels. Trained from scratch on 11,540 unlabeled Human Phenotype Project scans, LeDXA was evaluated internally and on 47,400 external UK Biobank (UKBB) scans. It improved cross-cohort prediction of prevalent diseases and biomarkers beyond scanner-derived DXA measurements and DINOv3, a state-of-the-art general-purpose model, despite approximately 150,000-fold fewer training images and nearly 40-fold fewer parameters. Over a median 4.3-year UKBB follow-up, LeDXA improved incident disease prediction over tabular DXA measures, with the largest gains for hip and knee arthrosis and type 2 diabetes. For hip arthrosis, 66% of incident cases occurred in the highest-risk quartile versus 41% for tabular measures. Its representations predicted chronological age externally (r = 0.88; mean absolute error = 2.90 years), and the biological-age gap tracked broader disease burden and a 45% higher mortality hazard in the oldest-appearing quartile. The gap also decreased in women after starting hormone-replacement therapy, suggesting it may be modifiable. Genome-wide associations recovered mostly known body-composition and bone-density loci, and LeDXA embeddings were more heritable than DINOv3's. These findings reveal prognostic information in DXA images that conventional readouts discard, learnable with relatively little data and modest compute.
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