In the recently published on its web page that points to the "2015 Research Highlights - Promising Medical Advances" list include results in several areas: cancer, Ebola, HIV, multidrug-resistant infections, etc. One of the studies published in this list refers a large international study that analyzed data osteoporosis and totally unexpected and novel findings in certain genetic variants linked to osteoporosis are detected, in particular a region near the homeobox engrailed - 1 gene (EN1)

The importance of this study is conditioned by the high prevalence of osteoporosis that affects 10 million Americans, their consequences are essentially different types of fractures (hip, vertebral crush) that cause a large number of surgeries, temporary incapacitation or permanent and death.

This study represents the first confirmation that the application of modern technologies to sequence the genome (known as mass sequencing or new generation) can help uncover genes involved in osteoporosis and other skeletal diseases as well as new targets in order to design therapies increasingly effective and safe

The researchers involved in this study published in the prestigious journal Nature in belonging to the Group of mineral and lipid metabolism IDIVAL and specifically are: Maite Zarrabeitia (Faculty of Medicine, University of Cantabria) Manuel Olmos and Jose Antonio Riancho ( Hospital Universitario Marques de Valdecilla).

"Never before EN1 related to osteoporosis in humans, so these findings open new prospects for the treatment of disease," says Dr. Richards, Associate Professor at McGill University. "This rare variant has a major influence on BMD and fracture risk; in fact, its effect is twice that of any other described above, "says Dr. Jose Antonio Riancho, Professor of Medicine at the University of Cantabria and coordinator of the Research Institute of Valdecilla (IDIVAL) who participated in the study team.

Más información: http://www.nih.gov/news-events/nih-research-matters/bone-risks-linked-genetic-variants

Referencia: Reference:Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Zheng HF, Forgetta V, Hsu YH, Estrada K, Rosello-Diez A, Leo PJ, Dahia CL, Park-Min KH, Tobias JH, Kooperberg C, Kleinman A, Styrkarsdottir U, Liu CT, Uggla C, Evans DS, Nielson CM, Walter K, Pettersson-Kymmer U, McCarthy S, Eriksson J, Kwan T, Jhamai M, Trajanoska K, Memari Y, Min J, Huang J, Danecek P, Wilmot B, Li R, Chou WC, Mokry LE, Moayyeri A, Claussnitzer M, Cheng CH, Cheung W, Medina-Gómez C, Ge B, Chen SH, Choi K, Oei L, Fraser J, Kraaij R, Hibbs MA, Gregson CL, Paquette D, Hofman A, Wibom C, Tranah GJ, Marshall M, Gardiner BB, Cremin K, Auer P, Hsu L, Ring S, Tung JY, Thorleifsson G, Enneman AW, van Schoor NM, de Groot LC, van der Velde N, Melin B, Kemp JP, Christiansen C, Sayers A, Zhou Y, Calderari S, van Rooij J, Carlson C, Peters U, Berlivet S, Dostie J, Uitterlinden AG, Williams SR, Farber C, Grinberg D, LaCroix AZ, Haessler J, Chasman DI, Giulianini F, Rose LM, Ridker PM, Eisman JA, Nguyen TV, Center JR, Nogues X, Garcia-Giralt N, Launer LL, Gudnason V, Mellström D, Vandenput L, Amin N, van Duijn CM, Karlsson MK, Ljunggren Ö, Svensson O, Hallmans G, Rousseau F, Giroux S, Bussière J, Arp PP, Koromani F, Prince RL, Lewis JR, Langdahl BL, Pernille Hermann A, Jensen JB, Kaptoge S, Khaw KT, Reeve J, Formosa MM, Xuereb-Anastasi A, Åkesson K, McGuigan FE, Garg G, Olmos JM, Zarrabeitia MT, Riancho JA, Ralston SH, Alonso N, Jiang X, Goltzman D, Pastinen T, Grundberg E, Gauguier D, Orwoll ES, Karasik D, Davey-Smith G; AOGC Consortium, Smith AV, Siggeirsdottir K, Harris TB, Carola Zillikens M, van Meurs JB, Thorsteinsdottir U, Maurano MT, Timpson NJ, Soranzo N, Durbin R, Wilson SG, Ntzani EE, Brown MA, Stefansson K, Hinds DA, Spector T, Adrienne Cupples L, Ohlsson C, Greenwood CM; UK10K Consortium, Jackson RD, Rowe DW, Loomis CA, Evans DM, Ackert-Bicknell CL, Joyner AL, Duncan EL, Kiel DP, Rivadeneira F, Richards JB. Nature. 2015 Sep 14. doi: 10.1038/nature14878. [Epub ahead of print]. PMID: 26367794

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