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Photo: University of Cantabria
(Caracas, July 27. Europa Press) – A new genetic test may predict the future risk of a person suffering from osteoporosis ] or a bone fracture, as confirmed by a study conducted by a researcher from the Faculty of Medicine at Stanford University (USA).
The study, one of the largest of its kind, identified 899 regions of the human genome associated with bone mineral density, of which 613 had never been identified before. Those considered high risk (approximately 2% of those tested) were 17 times more likely than others to develop osteoporosis and twice as likely to have a bone fracture in their lifetime.
In comparison, ] about 0.2 percent of the women evaluated will have a cancer-associated mutation in the BRCA2 gene which increases their risk of breast cancer to about six times more than a woman without this type of mutation.
"There are many ways to reduce the risk of stress fracture, including vitamin D, calcium and exercise with weights, but currently there is no protocol to predict to 20 or 30 years the risk of suffering from this type, "says Stuart Kim, Emeritus Professor of Developmental Biology, and a single author of the study, which Published Thursday in the magazine & # 39; PLOS ONE & # 39;
In the beginning, Kim started this investigation as a way to help elite athletes or members of the armed forces to know if they are likely to sustain a bone injury during the course of their life. After compiling the results, however, observed a strong correlation between individuals with the highest risk of low bone mineral density and the development of osteoporosis and fractures.
Several previous studies have shown that there is a genetic component in the development of osteoporosis: it is more likely to be developed if there is a family history of the disease. In addition to genetics, frequency and type of exercise or diet, as well as weight and sex, also play an important role in bone health.
Osteoporosis is usually diagnosed with a bone mineral density test. who uses X-rays to measure the amount of minerals, such as calcium in the hip, spine or heel. But bone mineral density tests are usually done in people with a family history of osteoporosis or in those who have suffered a recent fracture as a result of a simple fall.
– Student with 400,000 Patients –
Kim analyzed the genetic information health information of nearly 400,000 people in the British Biobank, a comprehensive collection of unidentified information made available to researchers of the whole world. For each participant, Kim collected data on bone mineral density, age, height, weight, and sex, as well as the genome sequence. Then he developed an algorithm to identify natural genetic differences between people with low bone mineral density.
Using this algorithm, Kim was able to identify 1,362 independent differences, or single-nucleotide polymorphisms, correlated with low bone mineral density. Then, to further refine the data, he used an automatic learning method called "LASSO" developed in 1996 by Robert Tibshirani, professor of biomedical data science and statistics at Stanford
. The result attributed to each of nearly 400,000 participants a score based on their risk of low bone mineral density. Further analyzes showed that the lower 2.2% of these scores were 17 times more likely to have been diagnosed with osteoporosis and almost twice as likely to have suffered a bone fracture.
Kim now plans to hold a trial Clinical for is studying whether elite athletes and members of the military have identified by the algorithm as a high risk of developing. Osteoporosis and possible fracture can increase their bone mineral density with simple preventative measures. He is also interested in conducting a similar study in young people without obvious clinical symptoms of bone weakness.
"I believe that this analysis has the potential to become the norm in the years to come.This would be a relatively simple measure to identify which ones should take into account their bone mineral density and, perhaps, take measures from an early age to ensure their future bone health, "concludes the researcher.
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