AI Unveils Genes Shaping Human Skeletons

Researchers from The University of Texas at Austin and New York Genome Center have harnessed AI (artificial intelligence) to analyze an extensive collection of X-ray images and genetic sequences, identifying genes responsible for shaping various aspects of the human skeleton, such as shoulder-width and leg length.

Revealing Evolutionary Insights and Medical Predictions

Their groundbreaking research, featured as the cover article in Science, provides fascinating revelations about our evolutionary past while offering the potential for enhanced medical predictions. 

By employing A.I. to analyze and quantify imaging data and integrating it with health records and genetics on a large scale, the study demonstrates the significant impact of A.I. in the field of medicine. 

The team, led by Vagheesh Narasimhan, an assistant professor in integrative biology, statistics, and data science, produced a genetic map of skeletal proportions.

Decoding the Genetic Basis of Human Skeletal Form

As humans are the only large primates with longer legs than arms—a critical adaptation for bipedalism—the researchers aimed to pinpoint the genetic changes responsible for anatomical differences evident in the fossil record, spanning from Australopithecus to Neanderthals. 

Additionally, they sought to understand how these skeletal proportions influence the risk of musculoskeletal diseases, including knee and hip arthritis, which afflict billions of people globally and are leading causes of adult disability in the United States.

AI Powered Analysis and Genetic Discoveries

The team employed deep learning models to automatically quantify distances between key body points in 39,000 medical images, including shoulders, knees, and ankles. 

By correlating these measurements with individuals’ genetic sequences, they identified 145 genomic points that control skeletal proportions, thus creating a roadmap linking specific genes to different body part lengths. Tarjinder (T.J.) 

Singh, a co-author of the study and associate member at NYGC, and assistant professor in the Columbia University Department of Psychiatry, underscored the significance of these findings for developmental biologists, enabling systematic investigations of the impact of individual genes on various body proportions.

Insights into Musculoskeletal Diseases

The study also explored the association between skeletal proportions and major musculoskeletal diseases. For instance, individuals with higher ratios of hip width to height were more likely to develop osteoarthritis and hip pain. In comparison, higher ratios of femur (thigh bone) length to height were linked to knee arthritis, knee pain, and other knee problems. 

Moreover, individuals with a higher torso length ratio to height were more prone to developing back pain. These findings highlight the influence of biomechanical stresses on joints over a lifetime and how skeletal proportions can be risk factors for these disorders.

Genomic Implications for Human Evolution

The study’s results also offer intriguing insights into human evolution. The researchers observed that several genetic segments controlling skeletal proportions overlapped more than expected with genome regions known as human accelerated regions.

While these regions are shared among great apes and many vertebrates, they have significantly diverged in humans. This genetic evidence supports the distinctiveness of our skeletal anatomy compared to other species.

Connecting Ancient and Modern Perspectives

Drawing a connection to Leonardo Da Vinci’s “The Vitruvian Man” from the Renaissance era, Narasimhan noted that their research addresses similar questions about the fundamental human form and its proportions. However, by employing modern methods and genetic inquiries, they are unveiling these proportions’ genetic determinants.

Read the original article on Phys.

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