Genome-wide search uncovers genes linked to osteoporosis

Washington, May 1 : A team of scientists at the Garvan Institute for Medical Research have discovered genes in the human genome that are linked to osteoporosis.

This is the first time when an extensive genome-wide search has been conducted to find the genes linked to osteoporosis and fracture.

Researchers identified five regions of interest that appear to warrant further scientific investigation.

There are 30,000 genes in the human genome, but until now few have been unequivocally associated with osteoporosis and fragility fractures.

The Garvan Institute collaborated with the Icelandic genetics company, deCode, for the study that examined 1500 women from Garvan's Dubbo Osteoporosis Epidemiology Study as well as more than 12,000 women from Iceland and Denmark.

"Genome-wide genotyping, a very demanding and labour-intensive procedure, measures genetic variations called 'Snips' (SNPs or single nucleotide polymorphisms), within each of our 30,000 genes," said Garvan's Associate Professor Tuan Nguyen, who has been involved with the Dubbo project over a period of nearly 20 years.

"The collaborative study examined more than 300,000 such markers and found 12 that were linked to bone mineral density and 6 linked to fragility fractures. Some of these Snips are close to genes that are already known to be associated with osteoporosis," Nguyen added.

Professor John Eisman, Head of Garvan's Bone Program, is very pleased with these findings.

"This international study and the access to the information it brings is a positive example of the value of world-wide scientific collaborations in the area of human genetics. The study identified a number of regions in the human genome that are already known to be important in bone biology, while others are yet to be investigated," he said.

"The next step will be identifying what those genes are and how they might contribute to our understanding of osteoporosis and its prevention. This is an important example of Australian science participating in international science at the highest level," he added. ccording to researchers, the discovery will allow the development of prognostic models, and help clinicians identify individuals with high risk of fracture for intervention.

The study appears online in the New England Journal of Medicine.

ANI