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Genetic screening could prevent bone fractures

One in five women carry both gene variants that increase risk

Lisa Hitchen

Wednesday, 30 April 2008

Screening for two gene variants linked to osteoporosis might be one way to reduce and treat the disease before women experience broken bones, suggest UK and Dutch researchers.

Scientists at King's College London, the Wellcome Trust Sanger Institute and Erasmus University Medical Centre in Rotterdam have shown that bone mineral density is linked to variations on genes in two chromosomes.

When both are present - in over one in five people- they increase the risk of osteoporosis and fractures by 30%, shows their study published online in the Lancet.

The team looked at 2094 female twins and identified the single nucleotide polymorphisms in their genes most likely to increase risk of osteoporosis.

They tested these in 6463 people from three other studies of mostly white women in Western Europe. They found a link between bone mineral density and two of these polymorphisms in chromosomes 8 and 11.

A variant of the gene on chromosome 11 was associated with decreased bone mineral density and a 30% increased risk of both osteoporosis and osteoporotic fractures. The one on chromosome 8 also decreased bone mineral density and increased the risk of osteoporosis by 20%.

A cohort of 1883 (22%) of 8557 people carried both of these risk variants. Their cumulative risk was increased by 30% and this was independent of bone mineral density.

‘These alleles can be measured with near-perfect precision years before the age at which fractures tend to occur. This could provide ample lead-time for preventive measures,’ said Professor Tim Spector of the Department of Twin Research and Genetic Epidemiology at King’s.

‘Eventually, a panel of genetic markers could be used in addition to environmental risk factors to identify individuals who are most at risk for osteoporotic fractures.’

Research into both genes and possible treatments is already taking place.


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