Osteoporosis Linked to Bone Gene

Medical Author: Frederick Hecht, M.D.
Medical Editor: Barbara K. Hecht, Ph.D.

Nov. 3, 2003 -- The most significant known genetic risk factor for osteoporosis was reported today. This risk factor is on chromosome 20. It is the gene for bone morphogenic protein 2 which is called BMP2.

Osteoporosis is a common condition characterized by abnormally low BMD (bone mineral density). It sets the stage for fractures of the hip, spine, and other bones. In the US alone there are a million osteoporotic fractures a year with direct medical costs over $10 billion. X-ray tests that measure bone density can detect osteoporosis . The research fingering BMP2 was done in Iceland which has unique population resources and is proving to be a rich hunting ground for genes that predispose to common diseases.

Blood samples were collected from over 1000 Icelanders with low bone density or osteoporotic fractures. The genealogy database for all of Iceland was then used to group the patients into 207 families.

DNA typing was done next to identify a chromosome region shared by patients in the osteoporosis families. This study yielded odds of over 10,000 to 1 that osteoporosis is linked to a region on chromosome 20. The region is 20p12.3.