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Novel gene implicated in osteoporosis

Susana Balcells and Daniel Grinberg, professors in the Department of Genetics and members of the Institute of Biomedicine of the UB (IBUB).

Susana Balcells and Daniel Grinberg, professors in the Department of Genetics and members of the Institute of Biomedicine of the UB (IBUB).

21/09/2015

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An uncommon variant of the gene EN1 contributes to bone mineral density and osteoporotic fractures, according to a study recently published in the journal Nature. Daniel Grinberg, expert in the Department of Genetics of the University of Barcelona (UB) and member of the Institute of Biomedicine of the UB (IBUB), has participated in the study. Xavier Nogués and Natàlia Garcia Giralt, experts at the Service of Internal Medicine of the Hospital del Mar and the Hospital del Mar Medical Research Institute (IMIM) also participate in the study, which is led by Brent Richards, professor at McGill University (Montreal, Canada).

 

The study is also part of a research line on bone pathologies developed by the Centre for Biomedical Network Research on Rare Diseases (CIBERER), led by professors Daniel Grinberg and Susana Balcells (Department of Genetics of the UB and IBUB) with the collaboration of experts on internal medicine from the Hospital del Mar and the IMIM. 

 

A multi-focus study with worldwide participation

This is the first international study —a multi-focus study in which research centres from all over the world participate— that links EN1 with the origin and development of osteoporosis, a common disease that will lead to fractures in between one-third and one-half of all women over the course of their lives. According to study conclusions, this uncommon genetic variant has a major influence on bone mineral density, which is major predictor of osteoporosis and osteoporotic fractures.

The research study has analysed the genome of more than 50,000 people from all over the world in order to identify new genes that have an influence in the risk of developing osteoporosis and osteoporotic fractures. The study, carried out by applying the most advanced genome sequencing technologies, proves that uncommon variants may play a major role in the development of diseases like osteoporosis.

The study is part of the international project Genetic Factors for Osteoporosis Consortium (GEFOS), funded by the European Union. The research team emphasizes the importance of sharing results of studies developed all over the world in order to “come to reliable conclusions”.

The research activity carried out by experts from the Department of Genetics of the UB and the IMIM, who have strongly collaborated with the project GEFOs to study the genetic basis of osteoporosis, has provided new data about genetic architecture and pathophysiological mechanisms linked with bone density variation and fracture susceptibility, a key factor to design new therapeutic strategies.

 

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