Scientists Discover Potential ‘Height Genes’ That Determine Bone Length and Shape
A recent study published in the journal Cell Genomics has provided valuable insights into the genetics of height. Researchers discovered that the length and shape of bones, which ultimately determine our stature, are determined by cells in the growth plates near the ends of our bones that harden during childhood development.
The study further identified potential “height genes” and revealed that genetic changes affecting cartilage cell maturation could strongly influence adult height.
These findings shed new light on the complex interplay between genetics and skeletal growth, and provide a promising avenue for further research and interventions to address height-related issues.
According to Nora Renthal, the senior author of the study and a pediatric endocrinologist at Boston Children’s Hospital and Harvard University, the study’s main focus was to unravel “the genetics of the skeletal” system. As someone who specializes in caring for children with skeletal diseases, Renthal is particularly interested in “understanding how bones grow.”
“Height is a good starting point to understand the relationship between genes, growth plates, and skeletal growth because we can measure the height of every human being.”
The research team employed a rigorous screening process to identify genes that are associated with height. By screening 600 million mouse cartilage cells, they were able to identify specific genes that, when deleted, can alter cell growth and maturation in ways that can lead to variations in human height. Through this approach, they were able to identify 145 genes that are crucial for growth plate maturation and bone formation, most of which are linked to skeletal disorders.
To refine their findings, the team then compared the identified genes with data from genome-wide association studies (GWAS) of human height. GWAS allows researchers to examine the entire human genome and identify regions where “height genes” are located. However, these regions can contain multiple genes, making it difficult for researchers to identify and study specific targets. Nonetheless, the comparison enabled the team to locate genes in our DNA that are likely to play a significant role in determining our stature.
“That’s kind of like looking for your friend’s house, but you only know the zip code,” explains Renthal. “It’s difficult.”
Upon comparing the identified genes with data from genome-wide association studies (GWAS) of human height, the team found that genes affecting cartilage cells overlap with the hotspots from GWAS, pinpointing the genes in our DNA that likely determine our stature. Nora Renthal and her team further discovered that many of the genes suggested by GWAS led to early maturation in cartilage cells, suggesting that genetic changes affecting cartilage cell maturation may have a greater influence on height.
However, Renthal cautions that studies conducted in mouse cells may not always translate to humans, and that GWAS are observational studies that cannot fully illustrate the cause and effects of height. Despite these limitations, her study provides a new method to bridge the two approaches and offers fresh insights into the genetics of human height.
The research team’s future plans include using their methodology to explore the impact of hormones on cartilage cells. They also intend to investigate some of the 145 genes that have not been linked to skeletal growth thus far. Through this investigation, the team hopes to uncover new genes and pathways that play a role in bone development and growth. This research could potentially lead to the development of novel treatments and interventions for a range of skeletal disorders.
“I see patients with skeletal dysplasia, where there isn’t any treatment because genetics made their bones grow this way,” says Renthal. “It’s my hope that the more we can understand about the biology of the growth plate, the more we would be able to intervene at earlier times in growing skeletons and the life of a kid.”
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