People with long legs are prone to knee diseases
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People with long legs are prone to knee diseases, AI helps reveal the genetic basis, evolution and disease association of human bone proportions.
More than 500 years ago, Leonardo Da Vinci created a sketch called “Vitruvian Man”. This work depicts the overall shape of human beings and the length and proportion of limbs. In this work, Da Vinci gave the perfect proportion of human limbs in his mind .
Humans are the only large primate with longer legs than arms, and this change in skeletal ratio is crucial for humans to be able to walk upright on two legs.
Upright walking is determined by specific anatomical properties of the human skeleton, including shorter arms relative to legs, narrower body and pelvis, and spinal orientation.
Despite more than a century of genetic research on the development of limbs and the overall structure of the body, a comprehensive map of genetic variation to describe overall skeletal morphology is still missing.
For example, which genes and how their expression regulates the modular development of forelimbs, hindlimbs and other long bones is still unclear, and the genetic basis of our skeletal proportions is not well characterized.
On July 20, 2023, researchers from the University of Texas at Austin and Columbia University Irving Medical Center published a research paper entitled: The genetic architecture and evolution of the human skeletal form in the journal Science , which was also selected as the cover paper of the current issue.
The study used artificial intelligence (AI) to combine whole-body X-ray image data with associated genomic data from more than 30,000 participants in the UK Biobank , helping to elucidate the genetic basis of human skeletal proportions.
The study also provides new insights into the evolution of human skeletal morphology and its role in musculoskeletal disorders , providing a window into human evolutionary history and may help doctors in the future better predict a patient’s risk of developing conditions such as back pain or arthritis.
The study also demonstrates the utility and feasibility of using large-scale imaging data from biobanks to understand disease-associated and normal bodily changes in humans.
Dr. Vagheesh Narasimhan , corresponding author of the paper , said that this study powerfully demonstrates the impact of artificial intelligence on medicine, especially in the analysis and quantification of imaging data, and the rapid and large-scale integration of this information with health records and genetics.
From extinct australopithecines, Neanderthals, and modern humans, anatomical differences are clearly visible in the fossil record, and the research team wanted to determine which genetic changes accounted for these differences.
They also want to understand how the proportion of bones that allow bipedal walking affects the risk of musculoskeletal diseases, such as arthritis of the knees and hips, which affect billions of people around the world.
Comparative genomics and evolutionary developmental biology approaches have yielded insights into the genetic basis of skeletal structure in animals, including reptiles and mammals.
However, these methods do not provide an unbiased and comprehensive map of loci that regulate whole body and skeletal proportions.
In order to study the genetic basis of human skeletal proportions (Skeletal Proportions, SPs) and its relationship with evolution and musculoskeletal diseases, the research team applied deep learning (Deep Learning) models and methods in computer vision to obtain human bone measurements from the whole-body X-ray images of 31,221 participants in the UK Biobank.
A genome-wide association analysis found 145 independent loci associated with skeletal proportions .
The findings provide a roadmap linking specific genes to bone length and proportions in different parts of the body and could help developmental biologists study these genes in a systematic way.
The study also found that while limb proportions exhibited strong gene sharing, they were not associated with body width proportions, a finding that provides insight into the limits of skeletal shape evolution.
Genetic correlations and genome structural equation modeling revealed that limb proportions exhibited strong genetic sharing but were genetically independent of width and trunk proportions.
The research team further analyzed the relationship between bone proportion and major musculoskeletal diseases, and the results showed that people with a high ratio of hip width to hip height (that is, wide hips and short legs) were more likely to suffer from osteoarthritis and hip pain. Likewise, people with a high femur length-to-height ratio (ie, proportionally long thighs) are more likely to suffer from knee arthritis, knee pain, and other knee problems. People with a high torso-length-to-height ratio (that is, a proportionally long upper body) are more likely to suffer from back pain.
These findings suggest an association between specific skeletal proportions and joint-specific osteoarthritis, and suggest that skeletal proportions influence not only everything from gait and sitting posture to physical appearance, but also musculoskeletal disease risk.
The research also has implications for our understanding of human evolution. The team noted that several gene segments that control bone proportions overlap more than expected with regions of the genome called Human Accelerated Regions (HARs) .
These are segments of the genome shared by great apes and many vertebrates but distinct in humans, providing a genome-level rationale for differences in skeletal anatomy between humans and other animals.
In a way, the research team says, this study is addressing a question da Vinci had wrestled with – what are the basic shapes and proportions of humans?
Using genomics and artificial intelligence methods, the research team demonstrated that natural selection shaped the most fundamental anatomical transitions in human evolution.
Changes in overall skeletal morphology endowed humans with the unique ability to walk upright, and discovered independent genetic loci related to skeletal proportions. Changes were also linked to the risk of human musculoskeletal diseases .
Paper link :
https://www.science.org/doi/10.1126/science.adf8009
People with long legs are prone to knee diseases
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