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New Meta-Study Shows Osteoporosis is Linked to Genetic Variants

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Scientists from the The Institute of Aging Research, a part of the Harvard Medical School, are the authors of a new large meta-study. During their study they have discovered numerous genetic variants that are connected to a higher risk of osteoporosis in specific patients but are also connected to other bone-breaking disorders.

The study was published on the 16th of April in the journal Nature Genetics and reports a number of 56 different genetic variants that were found to be connected to the BMD (Bone Mineral Density – the main indication for osteoporosis).

A number of fourteen genetic variants have been proven to be connected to a higher risk of bone fractures. This study is the first one to discover so many genetic variants to be linked with a high risk of bone fractures.

The importance of the study is due to the fact that almost 1.5 million fractures every year are caused by osteoporosis. Moreover, women aged 65 or more who suffer a fracture at the hip level have a higher risk of death than women who suffer from breast cancer. In addition to this, women over the age of 80 who suffer from the same type of hip fracture, are most likely to die within a year from the time they suffered the fracture.”This is the largest osteoporosis genetic study ever done”, said professor Douglas P. Kiel M.D., who is also the Director of the Musculoskeletal Research Center. He added that the goal of this study is to develop a personalized genetic treatment for patients suffering from osteoporosis while also better understanding the risk factors that are involved in the development of the disease.

Hip Fracture

Hip Fracture

The study was led by several international scientists, including Dr. Kiel and Dr. Yi-Hsiang Hsu. It involved more than a hundred scientists from all over the world. The data was gathered through 17 different studies conducted in separate parts of the world, whilst having the same subject: Bone Mineral Density of the spine and of the hip. The European Union funded for some of the resources used in the individual studies.

More than one hundred thousand patients participated in the meta-study. The data collected from the 17 studies came from almost thirty-three thousand patients. This data was then replicated with the help of another fifty thousand patients that participated in 34 other studies. All of the patients participating in these studies received bone density scans and underwent genotyping tests. The gathered data was then compared with data gathered from thirty-one thousand patients with a fracture history and almost one hundred thousand control patients.

The current meta-study identified 32 new genetic variants that are connected to the level of BMD. This comes as an addition to the 24 genetic variants that have already been discovered in previous studies. BMD is currently the most accurate predicting factor for fracture risk.

An extract from the study relates that “Results indicate that hundreds of variants with small effects may contribute to the genetic architecture of BMD and fracture risks”.

Dr. Kiel has announced that the Consortium of researchers from around the world that worked for the current study have already planned the next study. The future study will study the genetic variants that are connected to a higher fracture risk instead of more bone density research. Dr. Kiel believes that the fracture risk could be related to other factors besides bone density.