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Abstracts of the ECTS Congress 2018 ECTS 2018 26–29 May 2018, Valencia, Spain 45Th European Calcified Tissue Society Congress

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Abstracts of the ECTS Congress 2018 ECTS 2018 26–29 May 2018, Valencia, Spain 45Th European Calcified Tissue Society Congress Calcif Tissue Int (2018) 102:S1–S159 https://doi.org/10.1007/s00223-018-0418-0 ABSTRACTS Abstracts of the ECTS Congress 2018 ECTS 2018 26–29 May 2018, Valencia, Spain 45th European Calcified Tissue Society Congress Published online: 4 May 2018 Ó Springer Science?Business Media, LLC, part of Springer Nature 2018 Scientific Programme Committee Chair: Anna Teti (L’Aquila, Italy) Co-Chairs: Claus-Christian Glu¨er (Kiel, Germany) Clinical Co-Chair: Juliet Compston (Cambridge, UK) Basic and Translational Co-Chair: Andre´ Uitterlinden (Rotterdam, Netherlands) Members: Bo Abrahamsen (Copenhagen, Denmark) Nuria Guan˜abens (Barcelona, Spain) Leonor Cancela (Faro, Portugal) Mattias Lorentzon (Gothenburg, Sweden) Roland Chapurlat (Lyon, France) Martina Rauner (Dresden, Germany) Local Organising Committee Chair: Nu´ria Guan˜abens (Barcelona, Spain) Members: Josep Blanch Rubio´ (Barcelona, Spain) Placido Llaneza (Oviedo, Spain) Cristina Campos (Valencia, Spain) Angels Martinez-Ferrer (Barcelona, Spain) Antonio Cano (Valencia, Spain) Xavier Nogue´s (Barcelona, Spain) ECTS Academy Members Ozge Uluckan (Madrid, Spain) Carmen Huesa (Paisley, UK) 123 S2 Abstracts (2018) 102:S1–S159 Abstract Review Panel Each abstract was scored blind. Abrahamsen, Bo (Denmark) de Vries, Teun (Netherlands) Kjaer, Mchael (Denmark) Roux, Christian (France) Agis, Hermann (Austria) Diez-Perez, Adolfo (Spain) Klaushofer, Klaus (Austria) Rucci, Nadia (Italy) Alonso, Nerea (United Kingdom) Ducy, Patricia (United States) Klein Nulend, Jenneke (Netherlands) Santini, Daniele (Italy) Arnett, Tim (United Kingdom) Eastell, Richard (United Kingdom) Kornak, Uwe (Germany) Scheafer, Arne (Germany) Aspden, Richard (United Kingdom) Edwards, Claire (United Kingdom) Kraenzlin, Marius (Switzerland) Schinke, Thorsten (Germany) Athanasio, Anastasilakis (Greece) Edwards, James (United Kingdom) Kro¨nke, Gerhard (Germany) Schnabel, Dirk (Germany) Baldini, Nicola (Italy) Elefteriou, Florent (United States) Lafage-Proust, Marie-Helene (France) Schwartz, Jean-Marc (United Kingdom) Banfi, Giuseppe (Italy) Engelke, Klaus (Germany) Langman, Craig (United States) Schwarz, Peter (Denmark) Baschant, Ulrike (Germany) Eriksen, Erik (Norway) Lanske, Beate (United States) Seibel, Markus (Austria) Ba¨uerle, Tobias (Germany) Fahrleitner-Pammer, Astrid (Austria) Legai-Mallet, Laurence (France) Settembre, Carmine (Italy) Berenbaum, Francis (France) Farquharson, Colin (United Kingdom) Lems, Willem (Netherlands) Sobacchi, Cristina (Italy) Bergwitz, Clemens, Ferrari, Serge (Switzerland) Lips, Paul (Netherlands) Sonntag, Stephan (Switzerland) Bianchi, Gerolamo (Italy) Forlino, Antonella (Italy) Machuca, Irma (France) Staines, Katherine (United Kingdom) Bianchi, Maria Luisa (Italy) Fraser, William (United Kingdom) Marie, Pierre (France) Stenbeck, Gudrun (United Kingdom) Blin-Wakkach, Claudine (France) Fukumoto, Seiji (Japan) Matsumoto, Toshio (Japan) Szulc, Pawel (France) Bonnet, Nicolas (Switzerland) Funck-Brentano, Thomas (France) Maurizi, Antonio (Italy) Taipaleenma¨ki, Hanna (Germany) Boot, Annemieke (Netherlands) Galbusera, Fabio (Italy) Mazzaferro, Sandro (Italy) Teti, Anna (Italy) Bouillon, Roger (Belgium) Garnero, Patrick (France) Medina-Gomez, Carolina (Netherlands) Tobias, Jon (United Kingdom) Bouxsein, Mary (United States) Gautvik, Kaare (Norway) Merlotti, Daniela (Italy) Tsourdi, Elena (Germany) Boyde, Alan (United Kingdom) Gennari, Luigi (Italy) Minisola, Salvatore (Italy) Tuckermann, Jan (Germany) Briggs, Michael (United Kingdom) Geoffroy, Valerie (France) Mu¨ller, Ralph (Switzerland) Uluckan, Ozge (Spain) Briot, Karine (France) Gianfrancesco, Fernando (Italy) Napoli, Nicola (Italy) van de Peppel, Jeroen (Netherlands) Burden, Andrea (Netherlands) Glueer, Claus (Germany) Nishimura, Riko (Japan) van der Eerden, Bram (Netherlands) Busse, Bjo¨rn (Germany) Goldring, Mary (United States) Noda, Masaki (Japan) van der Pluijm, Gabri (Netherlands) Campbell, Graeme (Germany) Goldring, Steven (United States) Nuki, George (United Kingdom) van Driel, Marjolein (Netherlands) Cancela, Leonor (Portugal) Gregory, Jenny (United Kingdom) Obermayer-Pietsch, Barbara (Austria) van Hul, Wim (Belgium) Cappariello, Alfredo (Italy) Grigoriadis, Agi (United Kingdom) Orriss, Isabel (United Kingdom) van Lenthe, G Harry (Belgium) Capulli, Mattia (Italy) Grinberg, Daniel (Spain) Orwoll, Eric (United States) van Wijnen, Andre (United States) Carmeliet, Gertrudis (Belgium) Guanabens, Nuria (Spain) Pacifici, Roberto (United States) Veldhuis-Vlug, Annegreet (Netherlands) Cenci, Simone (Italy) Guarnieri, Vito (Italy) Paschalis, Eleftherios (Austria) Vestergaard, Peter (Denmark) Chapurlat, Roland (France) Hackl, Matthias (Austria) Peris, Pilar (Spain) Vico, Laurence (France) Chenu, Chantal (United Kingdom) Hadji, Peyman (Germany) Peyruchaud, Olivier (France) Villa, Anna (Italy) Civitelli, Roberto (United States) Hay, Eric (France) Pietschmann, Peter (Austria) Ward, Kate (United Kingdom) Clark, Emma (United Kingdom) Hesse, Eric (Germany) Pitsillides, Andrew (United Kingdom) Williams, Graham (United Kingdom) Clezardin, Philippe (France) Holen, Ingunn (United Kingdom) Provot, Sylvain (France) Young, Marian (United States) Cohen-Solal, Martine (France) Huesa, Carmen (United Kingdom) Ralston, Stuart (United Kingdom) Zambuzzi, Willian (Brazil) Colaianni, Graziana (Italy) Ignatius, Anita (Germany) Ramasamy, Saravana (United Kingdom) Zaucke, Frabk (Germany) Compston, Juliet (United Kingdom) Jafari, Abbas (Denmark) Rauner, Martina (Germany) Zillikens, Carola (Netherlands) Cooper, Cyrus (United Kingdom) Ja¨hn, Katharina (Germany) Reid, David (United Kingdom) Zwerina, Jochen (Austria) Cooper, Mark (United Kingdom) Jakob, Franz (Germany) Rejnmark, Lars (Denmark) Zysset, Philippe (Switzerland) Cormier-Daire, Valerie (France) Javaid, Kassim (United Kingdom) Riminucci, Mara (Italy) Cosman, Felicia Karperien, Marcel (Netherlands) Roato, Ilaria (Italy) Cummings, Steve (United States) Kassem, Moustapha (Denmark) Robey, Pamela Gehron (United States) Dawson-Hughes, Bess (United States) Kiel, Doug (United States) Rossi, Antonio (Italy) 123 Abstracts (2018) 102:S1–S159 S3 Plenary Oral Presentations 1: Bone regulators Previously, a genome-wide association study (GWAS) of calcaneal ultrasound estimated BMD (eBMD) in 142,487 individuals was per- PLO01 formed, identifying 203 loci, explaining 12% of the trait variance and identifying novel determinants of osteoporosis. Here, we performed a A high resolution Capture-C promoter ‘interactome’ implicates causal GWAS of eBMD in 426,824 White-British UK Biobank participants genes at BMD GWAS loci (55% female). Using a bioinformatics workflow that integrated statistical Alessandra Chesi1, Matthew E. Johnson1, Yadav Wagley2, Sumei fine-mapping and functional genomics data, we prioritized genes for Lu1, Michelle E. Leonard1, Kenyaita M. Hodge1, James A. Pippin1, functional experiments in whole animal models and demonstrated the Elisabetta Manduchi1,3, Andrew D. Wells1,4, Kurt D. Hankenson2, utility of this workflow by focusing on dishevelled-associated activator of Struan F.A. Grant1,5,6 morphogenesis 2 (DAAM2), a novel gene involved in Wnt-signalling. We identified 1,106 conditionally-independent signals 1Center for Spatial and Functional Genomics, Children’s Hospital of (P \ 6.6 9 10-9) mapping to 518 loci (301 novel) and explained Philadelphia, Philadelphia, United States, 2Department of Ortho- 20% of the trait variance. Our workflow prioritized 538 protein- paedic Surgery, University of Michigan, Ann Arbor, United States, coding genes (247 from novel loci), which we found were strongly 3Institute for Biomedical Informatics, University of Pennsylvania enriched for expression in osteoblasts and osteocytes, and known Perelman School of Medicine, Philadelphia, United States, 4Depart- genes for osteoporosis drug targets and bone disorders. Our workflow ment of Pathology and Laboratory Medicine, University of identified plausibly causal coding SNPs for DAAM2, therefore we Pennsylvania Perelman School of Medicine, Philadelphia, United generated homozygous (Daam2-/-) and heterozygous knockout mice States, 5Department of Pediatrics, University of Pennsylvania for skeletal phenotyping with X-ray microradiography, microtomog- Perelman School of Medicine, Philadelphia, United States, 6Divisions raphy, and biomechanical testing. Daam2-/- mice had a small non- of Genetics and Endocrinology, Children’s Hospital of Philadelphia, significant reduction in femur length, and reduced femur and vertebral Philadelphia, United States bone mineral content. Structural parameters of trabecular and cortical There is clear evidence for a genetic component to the patho- bone did not differ between wild-type and Daam2-/- mice. Strik- genesis of osteoporosis. Intense genome wide association study ingly, despite normal bone structural parameters, maximum load was (GWAS) efforts have been successful in discovering key genetic greatly reduced in Daam2-/- femurs and vertebrae (2.14 standard variants robustly associated with bone mineral density (BMD), both deviations below predicted strength), suggesting Daam2 deficiency in children and adults. However, it is known that GWAS only reports impaired bone quality. genomic signals and not necessarily the precise localization of culprit Here, we increased the number of associated loci 2.5-fold, the genes. Given the notable paucity of genomic data available on bone in variance explained to 20%, provided an efficient strategy to prioritize the public domain, and to improve upon the low resolution of typical genes,
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