Genes Linked to Osteoporosis Identified

Could be potential targets for new treatments, two studies suggest

By Steven Reinberg
HealthDay Reporter

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TUESDAY, April 29 (HealthDay News) -- Two teams of researchers report finding a series of gene variants linked to bone density and the risk for fracture, which might also be linked to osteoporosis.

While not a predictor of individual risk for osteoporosis, this finding could lead to new therapies to combat the disease, they noted.

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"When we look at a screening of genes for osteoporosis and low-impact fractures, we find five loci in the genome, and a couple of them fall into very well-known areas associated with the formation of bone," said researcher Dr. Kari Stefansson, founder and CEO of deCODE Genetics in Reykjavik, Iceland. His team's report was published Tuesday online as an early release from the New England Journal of Medicine.

Osteoporosis, however, involves many genes, not just the five areas identified in this study, Stefansson noted. "Osteoporosis is a very complex phenomenon," he said.

Stefansson was clear that these findings are not something that can be used in diagnosing osteoporosis. "It is a very exciting insight into the biology," he said. "We are beginning to understand osteoporosis."

One of the genes, the researchers identified it as the RANKL gene, is a target of new drugs in clinical trials being tested for osteoporosis, Stefansson said.

In the study, Stefansson and colleagues analyzed genes from 5,061 Icelanders. The researchers looked at those associated with bone mineral density.

Stefansson's team found a significant association with bone mineral at five gene regions. These regions are close to or included in genes that have previously been shown to be associated with bone and the development of osteoporosis.

In addition to RANKL, the other genes are the estrogen receptor 1 gene, the osteoporosis gene, and a gene region, including 40 genes called ZBTB40. In addition, the gene region identified as 6p21 is also involved in bone mineral density, the researchers reported.

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