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Potential Susceptibility Genes for Osteoporosis Identified

Several genes are associated with bone mineral density in Europeans

WEDNESDAY, April 30 (HealthDay News) -- Genes associated with bone mineral density and low-energy fractures in European populations have been identified, according to a report published online April 29 in the New England Journal of Medicine.

Unnur Styrkarsdottir, Ph.D., of deCODE Genetics in Reykjavik, Iceland, and colleagues performed a genomewide association study on a discovery set of 5,861 Icelandic subjects, testing for an association between 301,019 single-nucleotide polymorphisms (SNPs) and bone mineral density of the hip and lumbar spine. Implicated SNPs were also tested in replication sets including a total of 7,925 Icelandic, Danish and Australian subjects.

The researchers identified sequence variants in five genomic regions that correlated significantly with bone mineral density in the discovery set, and confirmed the association in the replication sets. Three regions were located near or within genes known to influence bone metabolism: the receptor activator of nuclear factor-κB ligand gene (RANKL), the osteoprotegerin gene (OPG) and the estrogen receptor 1 gene (ESR1). Several loci were also associated with osteoporotic fractures, the report indicates.

"Probably the most important effect of these and other genomewide association studies is the insight they provide into the underlying biology of disease," according to the authors of an accompanying editorial, who speculate that some of the identified loci could "be good drug targets and provide leads for the development of improved therapies and preventive measures."

This study was funded by deCODE Genetics, and several of the study co-authors are employed by the company. In addition, one study author reports receiving consulting and lecture fees from several pharmaceutical companies.

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