Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density

Autor: Karol Estrada, Natalia Garcia-Giralt, Stuart H. Ralston, Bjarke Feenstra, Luigi Gennari, Fernando Gianfrancesco, Lise B. Husted, Evangelos Evangelou, James F. Wilson, Bente L. Langdahl, Xavier Nogués, Douglas P. Kiel, Fernando Rivadeneira, Xueping Liu, Ian J. Deary, Janja Marc, Mads Melbye, Carolina Medina-Gomez, Kay-Tee Khaw, Ricardo Usategui-Martín, Katharina E. Schraut, Laura Masi, Rogelio González-Sarmiento, André G. Uitterlinden, Ole Kristoffer Olstad, Yi-Hsiang Hsu, Joshua R. Lewis, Richard L. Prince, Carmen Valero, Emma L. Duncan, Pau Navarro, José A. Riancho, Toshiko Tanaka, Philip Riches, Carrie M. Nielson, Orit Wolstein, Niamh M. Ryan, John A. Eisman, Roberto Elosua, George Markozannes, Nerea Alonso, Simona Mencej-Bedrač, John M. Starr, Evangelia E. Ntzani, Stephen Kaptoge, Sjur Reppe, Kathryn L. Evans, Ling Oei, Gavin Lucas, Patrizia D'Amelio, Lizbeth Herrera, Kaare M. Gautvik, Anna Daroszewska, Matthew A. Brown, Omar M. E. Albagha, Maria Luisa Brandi, Javier del Pino-Montes, Jesús Castillo, Gail Davies, Luigi Ferrucci, José M. Olmos

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname
Annals of the rheumatic diseases 77 (2018): 378–385. doi:10.1136/annrheumdis-2017-212469
info:cnr-pdr/source/autori:Alonso N, Estrada K, Albagha OME, Herrera L, Reppe S, Olstad OK, Gautvik KM, Ryan NM, Evans KL, Nielson CM, Hsu YH, Kiel DP, Markozannes G, Ntzani EE, Evangelou E, Feenstra B, Liu X, Melbye M, Masi L, Brandi ML, Riches P, Daroszewska A, Olmos JM, Valero C, Castillo J, Riancho JA, Husted LB, Langdahl BL, Brown MA, Duncan EL, Kaptoge S, Khaw KT, Usategui-Martín R, Del Pino-Montes J, González-Sarmiento R, Lewis JR, Prince RL, D'Amelio P, García-Giralt N, Nogués X, Mencej-Bedrac S, Marc J, Wolstein O, Eisman JA, Oei L, Medina-Gómez C, Schraut KE, Navarro P, Wilson JF, Davies G, Starr J, Deary I, Tanaka T, Ferrucci L, Gianfrancesco F, Gennari L, Lucas G, Elosua R, Uitterlinden AG, Rivadeneira F, Ralston SH./titolo:Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density./doi:10.1136%2Fannrheumdis-2017-212469/rivista:Annals of the rheumatic diseases/anno:2018/pagina_da:378/pagina_a:385/intervallo_pagine:378–385/volume:77
Annals of the Rheumatic Diseases, 77(3). BMJ Publishing Group
Alonso, N, Estrada, K, Albagha, O M E, Herrera, L, Reppe, S, Olstad, O K, Gautvik, K M, Ryan, N M, Evans, K L, Nielson, C M, Hsu, Y-H, Kiel, D P, Markozannes, G, Ntzani, E E, Evangelou, E, Feenstra, B, Liu, X, Melbye, M, Masi, L, Brandi, M L, Riches, P, Daroszewska, A, Olmos, J M, Valero, C, Castillo, J, Riancho, J A, Husted, L B, Langdahl, B L, Brown, M A, Duncan, E L, Kaptoge, S, Khaw, K-T, Usategui-Martín, R, Del Pino-Montes, J, González-Sarmiento, R, Lewis, J R, Prince, R L, D'Amelio, P, García-Giralt, N, Nogués, X, Mencej-Bedrac, S, Marc, J, Wolstein, O, Eisman, J A, Oei, L, Medina-Gómez, C, Schraut, K E, Navarro, P, Wilson, J F, Davies, G, Starr, J, Deary, I, Tanaka, T, Ferrucci, L, Gianfrancesco, F, Gennari, L, Lucas, G, Elosua, R, Uitterlinden, A G, Rivadeneira, F & Ralston, S H 2018, ' Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density ', Annals of the Rheumatic Diseases, vol. 77, no. 3, pp. 378-385 . https://doi.org/10.1136/annrheumdis-2017-212469
Alonso, N, Estrada, K, Albagha, O M E, Herrera, L, Reppe, S, Olstad, O K, Gautvik, K M, Ryan, N M, Evans, K L, Nielson, C M, Hsu, Y-H, Kiel, D P, Markozannes, G, Ntzani, E E, Evangelou, E, Feenstra, B, Liu, X, Melbye, M, Masi, L, Brandi, M L, Riches, P, Daroszewska, A, Olmos, J M, Valero, C, Castillo, J, Riancho, J A, Husted, L B, Langdahl, B L, Brown, M A, Duncan, E L, Kaptoge, S, Khaw, K-T, Usategui-Martín, R, del Pino Montes, J, Gonzalez-Sarmiento, R, Lewis, J R, Prince, R L, D'Amelio, P, Garcia-Giralt, N, Nogues, X, Mencej-Bedrac, S, Marc, J, Wolstein, O, Eisman, J A, Oei, L, Medina-Gomez, C, Schraut, K, Navarro, P, Wilson, J F, Davies, G, Starr, J, Deary, I, Tanaka, T, Ferrucci, L, Gianfrancesco, F, Gennari, L, Lucas, G, Elosua, R, Uitterlinden, A G, Rivadeneira, F & Ralston, S H 2018, ' Identification of a novel locus on chromosome 2q13 which predisposes to clinical vertebral fractures independently of bone density ', Annals of the Rheumatic Diseases, vol. 77, no. 3, pp. 378-385 . https://doi.org/10.1136/annrheumdis-2017-212469
ANNALS OF THE RHEUMATIC DISEASES
Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Ann Rheum Dis. 2018 Mar; 77 (3): 378-385

[Objectives]: To identify genetic determinants of susceptibility to clinical vertebral fractures, which is an important complication of osteoporosis.
[Methods]: Here we conduct a genome-wide association study in 1553 postmenopausal women with cl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0401685c562c1db5a5dce4ac5e44904f
https://doi.org/10.1136/annrheumdis-2017-212469

Risk factors for symptomatic osteonecrosis in childhood ALL: A retrospective study of a Slovenian pediatric ALL population between 1970 and 2004

Autor: Janez Jazbec, Nataša Karas-Kuželički, Irena Mlinarič-Raščan, Simona Mencej-Bedrač, Janja Marc

Treatment induced non-traumatic osteonecrosis (ON) has been reported increasingly in children treated for acute lymphoblastic leukemia (ALL). Several risk factors for ON have been identified in childhood cancer patients; however, their diagnostic and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0b5763b9704366d1f617754133753e0
https://europepmc.org/articles/PMC4950129/

The combinations of polymorphisms in vitamin D receptor, osteoprotegerin and tumour necrosis factor superfamily member 11 genes are associated with bone mineral density

Autor: Janez Prezelj, Simona Mencej-Bedrač, Janja Marc, Barbara Ostanek, Karmen Teskac, Mojca Smelcer, Tomaz Kocjan

Publikováno v: Journal of Molecular Endocrinology. 42:239-247

1α,25-dihydroxyvitamin D3 upregulates tumour necrosis factor superfamily member 11 (TNFSF11) that codes for the receptor activator of nuclear factor κB ligand (RANKL), and downregulates osteoprotegerin (OPG) expression. We have analyzed the individ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd748ba5db753887fce68f7b6920cd41
https://doi.org/10.1677/jme-08-0108

Raloxifene pharmacodynamics is influenced by genetic variants in the RANKL/RANK/OPG system and in the Wnt signaling pathway

Autor: Andrej Zavratnik, Simona Mencej-Bedrač, Janja Zupan, Simona Jurkovic Mlakar, Janja Marc, Janez Preželj

Publikováno v: Drug Metabolism and Drug Interactions. 29

BACKGROUND Raloxifene is a selective estrogen receptor (ER) modulator (SERM) used for the treatment of osteoporosis. However, its efficacy and also its safety vary greatly among treated patients, and it might be influenced by the individuals' genetic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba7a41834ba11ebe8a6c8c30ae76aa0e
https://doi.org/10.1515/dmdi-2013-0066

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

Autor: Barbara Obermayer-Pietsch, Nerea Alonso, Su-Mei Xiao, Zoe H. Dailiana, Daniel I. Chasman, Andrew R. Wood, Ghi Su Kim, P. Eline Slagboom, Stephen Kaptoge, Sjur Reppe, L. B. Husted, André G. Uitterlinden, Jonathan Reeve, Emma L. Duncan, Annie W.C. Kung, Tomi Pastinen, Paul Leo, George Dedoussis, Paul Lips, Mattias Lorentzon, David M. Evans, Ling Oei, John A. Eisman, Nelson Ls Tang, Marcin Kruk, Hou-Feng Zheng, Brendan M. Buckley, Kun Zhu, Simona Mencej-Bedrač, James F. Wilson, Geoffrey C. Nicholson, Seung-Hun Lee, Elaine M. Dennison, Charles Kooperberg, Matthew A. Brown, Karol Estrada, Aaron K. Aragaki, Martha C. Castaño-Betancourt, Laura Masi, Ryan L. Minster, Gunnar Sigurdsson, John P. A. Ioannidis, Göran Hallmans, J. Wouter Jukema, Tony Kwan, John P. Kemp, Rebecca D. Jackson, Alireza Moayyeri, José A. Riancho, Dominique J. Verlaan, Joshua R. Lewis, Janez Prezelj, Claus Christiansen, Paul M. Ridker, Elza Khusnutdinova, Khusainova Ri, Roman S. Lorenc, David M. Reid, Yi-Hsiang Hsu, Claes Ohlsson, Ching-Ti Liu, Kannabiran Nandakumar, Nicholas J. Wareham, Lynda M. Rose, Albert V. Smith, Carolina Medina-Gomez, Evangelia E. Ntzani, Cornelia M. van Duijn, Kay-Tee Khaw, Gudmar Thorleifsson, Tamara B. Harris, P. C. Leung, Millan S. Patel, Laura M. Yerges-Armstrong, Yanhua Zhou, Lynne J. Hocking, Dan Mellström, Yongmei Liu, Frances M K Williams, Alan R. Shuldiner, Janja Marc, Omar M. E. Albagha, Theodora Koromila, Elizabeth A. Streeten, Fernando Rivadeneira, Braxton D. Mitchell, Karen A. Jameson, Hrefna Johannsdottir, L. Adrienne Cupples, Douglas P. Kiel, Tim D. Spector, Sulin Cheng, Kristin Siggeirsdottir, Stuart H. Ralston, Rui Jian Li, Ian Ford, J. Brent Richards, Serena Scollen, Scott Wilson, Guo Shuai Li, Mika Kähönen, Jean Woo, Munro Peacock, María T. Zarrabeitia, Soumya Raychaudhuri, Huibert A. P. Pols, John A Robbins, Morten Frost, Wim Van Hul, Andrea Z. LaCroix, David Karasik, Natasja M. van Schoor, Yurii S. Aulchenko, Jorma Viikari, Bente L. Langdahl, Xavier Nogués, Marika Laaksonen, Jung-Min Koh, Ian R. Reid, Dana Willner, Stefan T Palsson, Olle Svensson, Robert Luben, Markku Alen, Richard L. Prince, David Goltzman, Lizbeth Herrera, Thorvaldur Ingvarsson, Olli T. Raitakari, Sylvie Giroux, Kari Stefansson, Patrick Danoy, Susana Balcells, Eugene V. McCloskey, Pak C. Sham, Liesbeth Vandenput, Evangelos Evangelou, François Rousseau, Unnur Styrkarsdottir, Jesús González-Macías, Albert Hofman, Graeme R. Clark, M. Carola Zillikens, Steven R. Cummings, Magnus Karlsson, Panagoula Kollia, Thor Aspelund, Graeme Jones, William D. Leslie, Ben A. Oostra, Unnur Thorsteinsdottir, Maria Luisa Brandi, Stella Trompet, Michael J. Econs, Olivia Trummer, Ulrika Pettersson-Kymmer, José M. Olmos, Jane A. Cauley, Natalia Garcia-Giralt, Najaf Amin, Philip N. Sambrook, Terho Lehtimäki, Daniel L. Koller, David Duggan, Joyce B. J. van Meurs, Ville Aalto, Joel Eriksson, Roser Urreizti, Vilmundur Gudnason, Kaare M. Gautvik, Richard Eastell, Elin Grundberg, Bruce M. Psaty, Candace M. Kammerer, Jerome I. Rotter, Östen Ljunggren, Melissa Nolan Garcia, Cyrus Cooper, Tuan V. Nguyen, Frances A. Tylavsky

Publikováno v: Estrada, K, Styrkarsdottir, U, Evangelou, E, Hsu, Y-H, Duncan, E L, Ntzani, E E, Oei, L, Albagha, O M E, Amin, N, Kemp, J P, Koller, D L, Li, G, Liu, C-T, Minster, R L, Moayyeri, A, Vandenput, L, Willner, D, Xiao, S-M, Yerges-Armstrong, L M, Zheng, H-F, Alonso, N, Eriksson, J, Kammerer, C M, Kaptoge, S K, Leo, P J, Thorleifsson, G, Wilson, S G, Wilson, J, Aalto, V, Alen, M, Aragaki, A K, Aspelund, T, Center, J R, Dailiana, Z, Duggan, D J, Garcia, M, Garcia-Giralt, N, Giroux, S, Hallmans, G, Hocking, L J, Husted, L B, Jameson, K A, Khusainova, R, Kim, G S, Kooperberg, C, Koromila, T, Kruk, M, Laaksonen, M, Lacroix, A Z, Lee, S H, Leung, P C, Lewis, J R, Masi, L, Mencej-Bedrac, S, Nguyen, T V, Nogues, X, Patel, M S, Prezelj, J, Rose, L M, Scollen, S, Siggeirsdottir, K, Smith, A V, Svensson, O, Trompet, S, Trummer, O, van Schoor, N M, Woo, J, Zhu, K, Balcells, S, Brandi, M L, Buckley, B M, Cheng, S, Christiansen, C B, Cooper, C, Dedoussis, G, Ford, I, Nielsen, M F M, Goltzman, D, González-Macías, J, Kähönen, M, Karlsson, M, Khusnutdinova, E, Koh, J-M, Kollia, P, Langdahl, B L, Leslie, W D, Lips, P, Ljunggren, Ö, Lorenc, R S, Marc, J, Mellström, D, Obermayer-Pietsch, B, Olmos, J M, Pettersson-Kymmer, U, Reid, D M, Riancho, J A, Ridker, P M, Rousseau, F, Slagboom, P E, Tang, N L S, Urreizti, R, Van Hul, W, Viikari, J, Zarrabeitia, M T, Aulchenko, Y S, Castano-Betancourt, M, Grundberg, E, Herrera, L, Ingvarsson, T, Johannsdottir, H, Kwan, T, Li, R, Luben, R, Medina-Gómez, C, Palsson, S T, Reppe, S, Rotter, J I, Sigurdsson, G, van Meurs, J B J, Verlaan, D, Williams, F M K, Wood, A R, Zhou, Y, Gautvik, K M, Pastinen, T, Raychaudhuri, S, Cauley, J A, Chasman, D I, Clark, G R, Cummings, S R, Danoy, P, Dennison, E M, Eastell, R, Eisman, J A, Gudnason, V, Hofman, A, Jackson, R D, Jones, G, Jukema, J W, Khaw, K-T, Lehtimäki, T, Liu, Y, Lorentzon, M, McCloskey, E, Mitchell, B D, Nandakumar, K, Nicholson, G C, Oostra, B A, Peacock, M, Pols, H A P, Prince, R L, Raitakari, O, Reid, I R, Robbins, J, Sambrook, P N, Sham, P C, Shuldiner, A R, Tylavsky, F A, van Duijn, C M, Wareham, N J, Cupples, L A, Econs, M J, Evans, D M, Harris, T B, Kung, A W C, Psaty, B M, Reeve, J, Spector, T D, Streeten, E A, Zillikens, M C, Thorsteinsdottir, U, Ohlsson, C, Karasik, D, Richards, J B, Brown, M A, Stefansson, K, Uitterlinden, A G, Ralston, S H, Ioannidis, J P A, Kiel, D P & Rivadeneira, F 2012, ' Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture ', Nature Genetics, vol. 44, no. 5, pp. 491-501 . https://doi.org/10.1038/ng.2249
Dipòsit Digital de la UB
Universidad de Barcelona
Nature Genetics; Vol 44
Nature Genetics, 44(5), 491-501. Nature Publishing Group
Nature genetics
Nature Genetics, 44(5), 491-+. Nature Publishing Group
Recercat. Dipósit de la Recerca de Catalunya
instname
Nature Genetics
Estrada, K, Styrkarsdottir, U, Evangelou, E, Hsu, Y H, Duncan, E L, Ntzani, E E, Oei, L, Albagha, O M E, Amin, N, Kemp, J P, Koller, D L, Li, G, Liu, C T, Minster, R L, Moayyeri, A, Vandenput, L, Willner, D, Xiao, S M, Yerges-Armstrong, L M, Zheng, H F, Alonso, N, Eriksson, J, Kammerer, C M, Kaptoge, S K, Leo, P J, Thorleifsson, G, Wilson, S G, Wilson, J F, Aalto, V, Alen, M, Aragaki, A K, Aspelund, T, Center, J R, Dailiana, Z, Duggan, DJ, Garcia, M, Garcia-Giralt, N, Giroux, S, Hallmans, G, Hocking, L J, Husted, L B, Jameson, K A, Khusainova, R, Kim, G S, Kooperberg, C, Koromila, T, Kruk, M, Laaksonen, M, LaCroix, A Z, Lee, S H, Leung, P C, Lewis, J R, Masi, L, Mencej-Bedrac, S, Nguyen, T V, Nogues, X, Patel, M S, Prezelj, J, Rose, L M, Scollen, S, Siggeirsdottir, K, Smith, A V, Svensson, O, Trompet, S, Trummer, O, van Schoor, N M, Woo, J, Zhu, K, Balcells, S, Brandi, M L, Buckley, B M, Cheng, S L, Christiansen, C, Cooper, C, Dedoussis, G, Ford, I, Frost, M, Goltzman, D, Gonzalez-Macias, J, Kahonen, M, Karlsson, M, Khusnutdinova, E, Koh, J M, Kollia, P, Langdahl, B L, Leslie, W D, Lips, P T A M, Ljunggren, O, Lorenc, R S, Marc, J, Mellstrom, D, Obermayer-Pietsch, B, Olmos, J M, Pettersson-Kymmer, U, Reid, D M, Riancho, J A, Ridker, P M, Rousseau, F & Slagboom, P E 2012, ' Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture ', Nature Genetics, vol. 44, no. 5, pp. 491-501 . https://doi.org/10.1038/ng.2249
Nature Genetics, 44(5), 491
Estrada, K, Styrkarsdottir, U, Evangelou, E, Hsu, Y-H, Duncan, E L, Ntzani, E E, Oei, L, Albagha, O M E, Amin, N, Kemp, J P, Koller, D L, Li, G, Liu, C-T, Minster, R L, Moayyeri, A, Vandenput, L, Willner, D, Xiao, S-M, Yerges-Armstrong, L M, Zheng, H-F, Alonso, N, Eriksson, J, Kammerer, C M, Kaptoge, S K, Leo, P J, Thorleifsson, G, Wilson, S G, Wilson, J F, Aalto, V, Alen, M, Aragaki, A K, Aspelund, T, Center, J R, Dailiana, Z, Duggan, D J, Garcia, M, Garcia-Giralt, N, Giroux, S, Hallmans, G, Hocking, L J, Husted, L B, Jameson, K A, Khusainova, R, Kim, G S, Kooperberg, C, Koromila, T, Kruk, M, Laaksonen, M, Lacroix, A Z, Lee, S H, Leung, P C, Lewis, J R, Masi, L, Mencej-Bedrac, S, Nguyen, T V, Nogues, X, Patel, M S, Prezelj, J, Rose, L M, Scollen, S, Siggeirsdottir, K, Smith, A V, Svensson, O, Trompet, S, Trummer, O, van Schoor, N M, Woo, J, Zhu, K, Balcells, S, Brandi, M L, Buckley, B M, Cheng, S, Christiansen, C, Cooper, C, Dedoussis, G, Ford, I, Frost, M, Goltzman, D, González-Macías, J, Kähönen, M, Karlsson, M, Khusnutdinova, E, Koh, J-M, Kollia, P, Langdahl, B L, Leslie, W D, Lips, P, Ljunggren, Ö, Lorenc, R S, Marc, J, Mellström, D, Obermayer-Pietsch, B, Olmos, J M, Pettersson-Kymmer, U, Reid, D M, Riancho, J A, Ridker, P M, Rousseau, F, Slagboom, P E, Tang, N L S, Urreizti, R, Van Hul, W, Viikari, J, Zarrabeitia, M T, Aulchenko, Y S, Castano-Betancourt, M, Grundberg, E, Herrera, L, Ingvarsson, T, Johannsdottir, H, Kwan, T, Li, R, Luben, R, Medina-Gómez, C, Palsson, S T, Reppe, S, Rotter, J I, Sigurdsson, G, van Meurs, J B J, Verlaan, D, Williams, F M K, Wood, A, Zhou, Y, Gautvik, K M, Pastinen, T, Raychaudhuri, S, Cauley, J A, Chasman, D I, Clark, G R, Cummings, S R, Danoy, P, Dennison, E M, Eastell, R, Eisman, J A, Gudnason, V, Hofman, A, Jackson, R D, Jones, G, Jukema, J W, Khaw, K-T, Lehtimäki, T, Liu, Y, Lorentzon, M, McCloskey, E, Mitchell, B D, Nandakumar, K, Nicholson, G C, Oostra, B A, Peacock, M, Pols, H A P, Prince, R L, Raitakari, O, Reid, I R, Robbins, J, Sambrook, P N, Sham, P C, Shuldiner, A R, Tylavsky, F A, van Duijn, C M, Wareham, N J, Cupples, L A, Econs, M J, Evans, D M, Harris, T B, Kung, A W C, Psaty, B M, Reeve, J, Spector, T D, Streeten, E A, Zillikens, M C, Thorsteinsdottir, U, Ohlsson, C, Karasik, D, Richards, J B, Brown, M A, Stefansson, K, Uitterlinden, A G, Ralston, S H, Ioannidis, J P A, Kiel, D P & Rivadeneira, F 2012, ' Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture ', Nature Genetics, vol. 44, no. 5, pp. 491-501 . https://doi.org/10.1038/ng.2249

Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and ea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10a5126cd17c717f554ae4759c7d89e5
https://portal.findresearcher.sdu.dk/da/publications/bd43be94-0d24-4f19-b02d-e2b1c290c8dc