CPHG Researchers Identify Genes Influencing Bone Density

A research team, including CPHG members Drs. Larry Mesner, Ani Manichaikul, Stephen Rich and Charles Farber, has used a systems genetics approach in the mouse to identify Bicc1 as a novel regulator of bone mineral density (BMD).  BMD is the single strongest predictor of bone fractures, which are experienced by millions of Americans each year.  In addition to identifying Bicc1, the team demonstrated that Bicc1 affected BMD by altering the activity of bone-forming osteoblasts.  The group also showed, using a novel network-based approach, that Bicc1 influenced osteoblast activity through an interaction with a second gene, Pkd2. Data from two human genome-wide association meta-analyses were used to demonstrate that genetic variation in BICC1 and PKD2 were also associated with BMD in humans.

News of the researchers’ findings was reported in the May 5th issue of UVa Today.  The story was also covered by local TV and radio outlets and as a “Research Highlight” in a forthcoming issue of Nature Reviews Endocrinology. The full text of the paper, Bicc1 is a genetic determinant of osteoblastogenesis and bone mineral density, can be found in the online edition of The Journal of Clinical Investigation.