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Variant Alleles Predispose to Osteoporosis and Fractures

Screening for these alleles could help identify individuals at risk

THURSDAY, May 1 (HealthDay News) -- Individuals of European descent who possess variant alleles of genes regulating bone metabolism have an increased risk of osteoporosis and osteoporotic fractures, according to an article published online May 1 in The Lancet.

J.B. Richards, M.D., of King's College London in the United Kingdom, and colleagues performed a genomewide association study of 2,094 white British women to identify genetic loci associated with bone mineral density. They identified 314,075 single nucleotide polymorphisms (SNPs) and tested these in replication cohorts including 6,463 individuals of European descent.

Two SNPs correlated strongly with bone mineral density, one located near the osteoprotegerin gene on chromosome 8, and the second located in the lipoprotein-receptor-related protein (LRP5) gene on chromosome 11, the investigators found. The alleles were common, with 22 percent of tested individuals possessing at least one risk allele. The presence of both risk alleles significantly increased the risk of osteoporotic fractures independent of bone mineral density, the researchers report.

"The combined effect of these risk alleles on fractures is similar to that of most well-replicated environmental risk factors, and they are present in more than one in five white people, suggesting a potential role in screening," the authors write. "These alleles can be measured with near-perfect precision and without bias years before the age at which fractures tend to occur -- which could provide ample lead-time for preventive measures."

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