People who suffer from osteoporosis often find it difficult to carry out even simple activities because their bones have become so weak that they could easily break with minor stress. The condition severely limits their ability to live their lives normally.
While the exact cause of the condition is yet to be determined, an international team of scientists, led by McGill University associate professor Dr. Brent Richards, have discovered a variant of the EN1 gene that has the strongest impact on fracture and bone mineral density (BMD) ever to be identified.
Vince Forgetta, a researcher at the at the Jewish General Hospital's Lady Davis Institute and lead author of the study, said that the impact of the rare genetic variant they identified is twice as large as any genetic variants previously linked to fracture and BMD.
In a study featured in the journal Nature, Richards and his colleagues at the Lady Davis Institute made use of data collected through the UK10K project to measure variations of genes of 10,000 people.
The analysis of the data allowed the researchers to identify rare genetic changes related to human disease by comparing samples of DNA from healthy participants with those who have been diagnosed with health problems. Richards and his team were able to observe genetic variants that are not typically discernable through the use of such an extensive sample size.
The study also provides evidence that rare genetic variants are capable of causing a significant influence on common diseases.
Biostatistician Dr. Celia Greenwood of the Lady Davis Institute explained that the genetic sequencing being conducted through the help of data from the UK10K project is expected to exposed genetic factors of diseases that have yet to be identified.
Greenwood said that they are finally able to collect sufficient data to isolate variants that are highly uncommon in the overall population, as well as those that are more frequently observed among people with common diseases. She said that this is what has been observed between the EN1 gene and osteoporosis.
The researchers hope that the identification of the EN1 gene could help pave the way for the development of medicines capable of blocking osteoporosis.
Photo: Gary Minnaert | Flickr
