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Discovery of genes underlying fracture susceptibility and osteoporosis

According to a study published in the journal Nature Genetics, variants in 56 regions of the genome have been discovered to influence the Bone Mineral Density (BMD) of individuals. Fourteen of these variants were also found to increase the risk of bone fracture. Three researchers at Umeå University are involved in this study.

Osteoporosis is a frequent and devastating age-related disease: 50% of subjects that fracture their hip after age 80 years die within 12 months after the event. Actually, women older than 65 years are at greater risk for death after hip fracture than after breast cancer. While the consequences of osteoporosis are well established, the causes of the disease remain elusive. The disease is strongly genetically determined, but the responsible genes are largely unknown. However, this situation has changed dramatically today.

This is the first time such a large number of genetic variants have been robustly found associated with fracture risk. An international consortium, co-led by researchers from the Sahlgrenska Academy at Gothenburg University and also involving researchers from Umeå, Uppsala and Malmö, has studied more than 80,000 individuals with DXA scans (to measure bone mineral density) and examined the relation with fracture in approximately 30,000 cases and 100,000 controls. This constitutes the largest genetic study in osteoporosis performed to date.

This research leads to better understanding of the biology of skeletal health and fracture susceptibility. “In addition to the known proteins and pathways we have identified we are also confronted with completely new biology”, says Dr Ulrika Pettersson, Associate Professor at Umeå University and co-author of the publication.

“Our genetic study on BMD has allowed an unprecedented leap in sheer number of discoveries on human skeletal biology” explains Dr. Claes Ohlsson, Professor at the Sahlgrenska Academy, shared senior author of the study. “We have now pinpointed many factors in critical molecular pathways which are candidates for therapeutic applications.” he adds. “Such potential is highlighted by the identification (among others) of genes encoding proteins that are currently subject to novel bone medications. This is the case for denosumab (commercial name Prolia), a human monoclonal antibody against RANKL, a protein mediating the activation of bone resorption.”

“We also established that, as compared to women carrying the normal range of genetic factors, women with an excess of BMD-decreasing genetic variants had up to 56% higher risk of having osteoporosis adds Liesbeth Vandenput, Assistant Professor at the Sahlgrenska Academy and co-author of the study.

This study is part of the GEnetic Factors of OSteoporosis (GEFOS) project sponsored by the European Commission (FP7-HEALTH- F2-2008-201865-GEFOS). The article is authored by about 180 researchers, 10 of them in Sweden. Contributors at Umeå University, besides Ulrika Pettersson Kymmer, are Professor Göran Hallmans, Department of Public Health and Clinical Medicine, and Professor Olle Svensson, Department of Surgical and Perioperative Sciences.

Scientific contacts

Associate Professor Ulrika Pettersson-Kymmer, Clinical Pharmacology, Department of Pharmacology and Clinical Neuroscience, Umeå University, SE-901 87, Umeå, Sweden,
Tel: +46 702 313679, E-mail: ulrika.pettersson@pharm.umu.se

Professor Claes Ohlsson, Center for Bone and Arthritis Research, Department of Internal Medicine, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Vita Stråket 11, S-41345, Gothenburg, Sweden,
Tel.: +46 706 832966, E-mail: claes.ohlsson@medic.gu.se 

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David Meyers

David Meyers

Communication officer The Communications Office +46 90 786 95 98

Umeå University

Umeå University is one of Sweden's largest universities with over 37,000 students and 4,300 employees. The university is home to a wide range of education programmes and world-class research in a number of fields. Umeå University was also where the gene-editing tool CRISPR-Cas9 was discovered – a revolution in gene-technology that was awarded the 2020 Nobel Prize in Chemistry.

Founded in 1965, Umeå University is characterised by tradition and stability as well as innovation and change. Education and research on a high international level contributes to new knowledge of global importance, inspired, among other things, by the 2030 Agenda for Sustainable Development. The university houses creative and innovative people that take on societal challenges. Through long-term collaboration with organisations, trade and industry, and other universities, Umeå University continues to develop northern Sweden as a knowledge region.

The international atmosphere at the university and its unified campus encourages academic meetings, an exchange of ideas and interdisciplinary co-operation. The cohesive environment enables a strong sense of community and a dynamic and open culture in which students and staff rejoice in the success of others.

Campus Umeå and Umeå Arts Campus are only a stone's throw away from Umeå town centre and are situated next to one of Sweden's largest and most well-renowned university hospitals. The university also has campuses in the neighbouring towns Skellefteå and Örnsköldsvik.

At Umeå University, you will also find the highly-ranked Umeå Institute of Design, the environmentally certified Umeå School of Business, Economics and Statistics and the only architectural school with an artistic orientation – Umeå School of Architecture. The university also hosts a contemporary art museum Bildmuseet and Umeå's science centre – Curiosum. Umeå University is one of Sweden's five national sports universities and hosts an internationally recognised Arctic Research Centre.

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