IMIM: Novel gene implicated in osteoporosis

IMIM: Novel gene implicated in osteoporosis

News from the IMIM

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. 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. 

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).


More information:
IMIM website


Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Nature. 2015 Sep 14. doi: 10.1038/nature14878. [Epub ahead of print]