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Researchers have harnessed the power of artificial intelligence to delve into the mysteries of human skeletal structure. (CREDIT: Creative Commons)
Researchers from The University of Texas at Austin and New York Genome Center have harnessed the power of artificial intelligence to delve into the mysteries of human skeletal structure. Their groundbreaking study, featured in Science, sheds light on the genetic factors influencing our bone composition, paving the way for improved medical predictions and insights into our evolutionary past.
Led by Vagheesh Narasimhan, an assistant professor of integrative biology and statistics at UT Austin, the interdisciplinary team employed advanced AI algorithms to analyze a vast array of X-ray images and genetic data.
By scrutinizing over 39,000 medical images and correlating them with genetic sequences, the researchers identified 145 genetic points associated with skeletal proportions, ranging from shoulder width to leg length.
"Our research underscores the transformative potential of AI in medicine, particularly in the realm of analyzing medical imaging data and integrating it with genetics on a large scale," Narasimhan remarked.
The study aimed to uncover the genetic basis behind the unique skeletal features that distinguish humans from other primates. Specifically, the team investigated the evolutionary transitions in skeletal form from Australopithecus to modern humans, including Neanderthals.
Moreover, they sought to elucidate how these skeletal proportions influence the development of musculoskeletal conditions such as arthritis, a leading cause of adult disability globally.
Tarjinder Singh, a co-author of the study and associate member at NYGC, emphasized the significance of the findings in providing a genetic roadmap for understanding skeletal proportions. "Our work offers a systematic approach for developmental biologists to explore the genetic underpinnings of skeletal lengths," Singh stated.
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The researchers uncovered intriguing connections between skeletal proportions and musculoskeletal diseases. Individuals with a higher ratio of hip width to height were found to be predisposed to osteoarthritis and hip pain, while those with elongated thigh bones relative to height were more prone to knee arthritis and related issues.
Additionally, individuals with longer torsos in proportion to height exhibited a heightened risk of back pain.
Eucharist Kun, the lead author of the paper and a biochemistry graduate student at UT Austin, highlighted the biomechanical significance of skeletal proportions in predisposing individuals to these disorders. "Our findings underscore the profound impact of skeletal proportions on various aspects of human movement and posture, contributing to the development of musculoskeletal conditions over time," Kun explained.
Measurement of SPs using a deep learning–based landmark estimation method on full-body DXAs. (B) Location of loci that localize to a single protein-coding gene and are associated with various SPs, colored according to the scheme in (A). (CREDIT: Science)
Beyond its clinical implications, the study offers insights into human evolution. The researchers observed that genetic segments governing skeletal proportions overlapped with human accelerated regions in the genome—areas that have undergone significant evolutionary divergence in humans compared to other species. This genetic rationale sheds light on the evolutionary adaptations that shaped human skeletal anatomy.
The study draws parallels with the enduring curiosity of Renaissance polymath Leonardo da Vinci, whose iconic work "The Vitruvian Man" explored the ideal proportions of the human body.
Significant phenotypic and genetic associations of various SPs with musculoskeletal disease or joint pain. Number notations in parentheses are the ICD-10 (International Classification of Diseases, Tenth Revision) codes associated with each disease. OA, osteoarthritis; TFA, tibiofemoral angle. (D) SPs with genomic evidence of human-specific evolution. (CREDIT: Science)
Narasimhan noted the contemporary relevance of their research, stating, "In many ways, we're tackling the same fundamental question that Da Vinci pondered—what defines the basic human form and its proportions? However, we're leveraging modern techniques to uncover the genetic determinants of these proportions."
By leveraging AI technology and genomic analysis, this study represents a significant step forward in unraveling the intricate relationship between genes, anatomy, and health.
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