08:32pm Thursday 20 February 2020

New genetic cause for osteoporosis identified in international study

It is within the UK10K project to genome sequence 10,000 individuals that the scientists have discovered a genetic variant near the gene EN1 as having the strongest effect on bone mineral density (BMD) and bone fractures that have been identified to date.

“EN1 has never before been linked to osteoporosis in humans, so this is a completely new molecular pathway to explore further in the hopes of developing drugs to stop the disease,” says Ulrika Pettersson Kymmer, Associate Professor and Chief Physician at the Department of Pharmacology and Clinical Neuroscience, Umeå University, one of co-authors and head responsible for the UFO cohort contribution to the study.

“The effect on bone density and fracture risk that we have identified in this gene are twice as great as any of the previously identified genetic variants,” continues Pettersson Kymmer.

Osteoporosis is a common disease that will lead to fractures in between one-third and one-half of all women over the course of their lives. Because osteoporosis becomes more severe with age, it is becoming more prevalent with the overall aging of the population. There are currently few safe and effective treatments for osteoporosis, and no curative therapies available.

The study was conducted by a team of international researchers at the Lady Davis Institute at the Jewish General Hospital in Montreal, Canada, and was conducted by using extensive genetic data compiled by the UK10K project. 

The UK10K project has measured genetic variations in 10,000 individuals in great detail, allowing researchers to correlate rare genetic changes with human disease by comparing the DNA of healthy individuals with those who have health problems. The use of such an extensive sample size allows for the observation of genetic variants that are not discernible among smaller groups. This particular study also stands as proof of principle that uncommon genetic variants can have a significant impact on common diseases.

“The results of the study rule out or at least reduces the significance of the previously known genetic risk factors for osteoporosis. Thanks to the collaboration with the UK10K project, we now have sufficient data to identify genetic variants that are rare in the overall population, but more common among groups with common diseases, such as osteoporosis,” says Ulrika Pettersson Kymmer.

Read the study in the journal Nature


For more information, please contact:


Ulrika Pettersson Kymmer
Department of Pharmacology and Clinical Neuroscience, Umeå University
Phone: +46 (0)70-231 36 79
E-mail: ulrika.pettersson@umu.se


High resolution portrait photo


About the study


Zheng H-F et al.Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Nature, published online 14 Sept 2015.


Co-authors at Umeå University, in addition to Ulrika Pettersson Kymmer, are:
Carl Wibom, Department of Radiation Sciences
Professor Beatrice Melin, Department of Radiation Sciences
Professor Göran Hallmans, Department of Public Health and Clinical Medicine
Professor Olle Svensson, Department of Surgical and Perioperative Sciences


DOI: 10.1038/nature14878


Editor: Mattias Grundström Mitz

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