In studies involving more than 35,000 people and a survey across the entire human genome, an international team supported in part by the National Institutes of Health (NIH) has found evidence that common genetic variants recently linked to osteoarthritis may also play a minor role in human height. The findings were released today in the advance online publication of the journal Nature Genetics.
The variants most strongly associated with height in the new genome-wide association study lie in a region of the human genome thought to influence expression of a gene for growth differentiation factor 5 (GDF5), which is a protein involved in the development of cartilage in the legs and other long bones. Rare variants in the GDF5 gene have been associated with disorders of skeletal development, and more common variants recently have been tied to susceptibility to osteoarthritis of the hip and knees in Asian and European populations.
The common variants we identified are associated with both short stature and, as described previously, increased risk of osteoarthritis, said the studys senior author Karen L. Mohlke, Ph.D., of the University of North Carolina, Chapel Hill. Our findings suggest a link between the genetic basis of height and osteoarthritis, potentially mediated through alterations in bone growth and development.
Dr. Mohlke and her colleagues emphasized that the new variants account for just a small fraction of the genetic basis of height, which means much more research is needed before scientists can paint a complete picture of this complex human trait.
A variety of factors, including genetics, prenatal environment and diet, interact to determine how tall someone grows. It is currently thought that genetic factors are responsible for at least 80 percent of the variation in height among people. However, the new genetic variants, together with another, recently identified height-associated genetic variant called HMGA2, a
|Contact: Geoff Spencer|
NIH/National Human Genome Research Institute