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3. Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway

Author

Fernandez‐Luna, Jose L., primary, Hernández, José L., additional, Curiel‐Olmo, Soraya, additional, Martínez‐Amador, Néstor A., additional, Vega, Ana I., additional, Quirce, Remedios, additional, Montes‐Moreno, Santiago, additional, Gutierrez, Olga, additional, del Real, Alvaro, additional, Sañudo, Carolina, additional, and Riancho, Jose A., additional

Published
2024
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4. A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

Author

Mingardo, Enrico, Beaman, Glenda, Grote, Philip, Nordenskjöld, Agneta, Newman, William, Woolf, Adrian S., Eckstein, Markus, Hilger, Alina C., Dworschak, Gabriel C., Rösch, Wolfgang, Ebert, Anne-Karolin, Stein, Raimund, Brusco, Alfredo, Di Grazia, Massimo, Tamer, Ali, Torres, Federico M., Hernandez, Jose L., Erben, Philipp, Maj, Carlo, Olmos, Jose M., Riancho, Jose A., Valero, Carmen, Hostettler, Isabel C., Houlden, Henry, Werring, David J., Schumacher, Johannes, Gehlen, Jan, Giel, Ann-Sophie, Buerfent, Benedikt C., Arkani, Samara, Åkesson, Elisabeth, Rotstein, Emilia, Ludwig, Michael, Holmdahl, Gundela, Giorgio, Elisa, Berettini, Alfredo, Keene, David, Cervellione, Raimondo M., Younsi, Nina, Ortlieb, Melissa, Oswald, Josef, Haid, Bernhard, Promm, Martin, Neissner, Claudia, Hirsch, Karin, Stehr, Maximilian, Schäfer, Frank-Mattias, Schmiedeke, Eberhard, Boemers, Thomas M., van Rooij, Iris A. L. M., Feitz, Wouter F. J., Marcelis, Carlo L. M., Lacher, Martin, Nelson, Jana, Ure, Benno, Fortmann, Caroline, Gale, Daniel P., Chan, Melanie M. Y., Ludwig, Kerstin U., Nöthen, Markus M., Heilmann, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart, Odermatt, Benjamin, Knapp, Michael, and Reutter, Heiko

Published
2022
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9. Genetic Variants Associated with Circulating Parathyroid Hormone

Author

Robinson-Cohen, Cassianne, Lutsey, Pamela L, Kleber, Marcus E, Nielson, Carrie M, Mitchell, Braxton D, Bis, Joshua C, Eny, Karen M, Portas, Laura, Eriksson, Joel, Lorentzon, Mattias, Koller, Daniel L, Milaneschi, Yuri, Teumer, Alexander, Pilz, Stefan, Nethander, Maria, Selvin, Elizabeth, Tang, Weihong, Weng, Lu-Chen, Wong, Hoi Suen, Lai, Dongbing, Peacock, Munro, Hannemann, Anke, Völker, Uwe, Homuth, Georg, Nauk, Matthias, Murgia, Federico, Pattee, Jack W, Orwoll, Eric, Zmuda, Joseph M, Riancho, Jose Antonio, Wolf, Myles, Williams, Frances, Penninx, Brenda, Econs, Michael J, Ryan, Kathleen A, Ohlsson, Claes, Paterson, Andrew D, Psaty, Bruce M, Siscovick, David S, Rotter, Jerome I, Pirastu, Mario, Streeten, Elizabeth, März, Winfried, Fox, Caroline, Coresh, Josef, Wallaschofski, Henri, Pankow, James S, de Boer, Ian H, and Kestenbaum, Bryan

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Human Genome, Genetics, Prevention, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Adult, Aged, Europe, Female, Genetic Variation, Genome-Wide Association Study, Humans, Male, Middle Aged, Parathyroid Hormone, Polymorphism, Single Nucleotide, genome-wide association study, human genetics, mineral metabolism, parathyroid hormone, Urology & Nephrology, Clinical sciences
Abstract

Parathyroid hormone (PTH) is a primary calcium regulatory hormone. Elevated serum PTH concentrations in primary and secondary hyperparathyroidism have been associated with bone disease, hypertension, and in some studies, cardiovascular mortality. Genetic causes of variation in circulating PTH concentrations are incompletely understood. We performed a genome-wide association study of serum PTH concentrations among 29,155 participants of European ancestry from 13 cohort studies (n=22,653 and n=6502 in discovery and replication analyses, respectively). We evaluated the association of single nucleotide polymorphisms (SNPs) with natural log-transformed PTH concentration adjusted for age, sex, season, study site, and principal components of ancestry. We discovered associations of SNPs from five independent regions with serum PTH concentration, including the strongest association with rs6127099 upstream of CYP24A1 (P=4.2 × 10-53), a gene that encodes the primary catabolic enzyme for 1,25-dihydroxyvitamin D and 25-dihydroxyvitamin D. Each additional copy of the minor allele at this SNP associated with 7% higher serum PTH concentration. The other SNPs associated with serum PTH concentration included rs4074995 within RGS14 (P=6.6 × 10-17), rs219779 adjacent to CLDN14 (P=3.5 × 10-16), rs4443100 near RTDR1 (P=8.7 × 10-9), and rs73186030 near CASR (P=4.8 × 10-8). Of these five SNPs, rs6127099, rs4074995, and rs219779 replicated. Thus, common genetic variants located near genes involved in vitamin D metabolism and calcium and renal phosphate transport associated with differences in circulating PTH concentrations. Future studies could identify the causal variants at these loci, and the clinical and functional relevance of these variants should be pursued.

Published
2017

10. A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip

Author

Evangelou, Evangelos, Kerkhof, Hanneke J, Styrkarsdottir, Unnur, Ntzani, Evangelia E, Bos, Steffan D, Esko, Tonu, Evans, Daniel S, Metrustry, Sarah, Panoutsopoulou, Kalliope, Ramos, Yolande FM, Thorleifsson, Gudmar, Tsilidis, Konstantinos K, Consortium, arcOGEN, Arden, Nigel, Aslam, Nadim, Bellamy, Nicholas, Birrell, Fraser, Blanco, Francisco J, Carr, Andrew, Chapman, Kay, Day-Williams, Aaron G, Deloukas, Panos, Doherty, Michael, Engström, Gunnar, Helgadottir, Hafdis T, Hofman, Albert, Ingvarsson, Thorvaldur, Jonsson, Helgi, Keis, Aime, Keurentjes, J Christiaan, Kloppenburg, Margreet, Lind, Penelope A, McCaskie, Andrew, Martin, Nicholas G, Milani, Lili, Montgomery, Grant W, Nelissen, Rob GHH, Nevitt, Michael C, Nilsson, Peter M, Ollier, William ER, Parimi, Neeta, Rai, Ashok, Ralston, Stuart H, Reed, Mike R, Riancho, Jose A, Rivadeneira, Fernando, Rodriguez-Fontenla, Cristina, Southam, Lorraine, Thorsteinsdottir, Unnur, Tsezou, Aspasia, Wallis, Gillian A, Wilkinson, J Mark, Gonzalez, Antonio, Lane, Nancy E, Lohmander, L Stefan, Loughlin, John, Metspalu, Andres, Uitterlinden, Andre G, Jonsdottir, Ingileif, Stefansson, Kari, Slagboom, P Eline, Zeggini, Eleftheria, Meulenbelt, Ingrid, Ioannidis, John PA, Spector, Tim D, van Meurs, Joyce BJ, and Valdes, Ana M

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Immunology, Prevention, Osteoarthritis, Human Genome, Arthritis, Genetics, Aging, 2.1 Biological and endogenous factors, Aetiology, Musculoskeletal, Calcium-Calmodulin-Dependent Protein Kinase Type 2, Female, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, HMGN Proteins, Homeodomain Proteins, Humans, Immediate-Early Proteins, Male, Nuclear Receptor Coactivator 3, Osteoarthritis, Hip, Polymorphism, Single Nucleotide, Protein Serine-Threonine Kinases, Protein-Tyrosine Kinases, Sex Factors, White People, arcOGEN Consortium, Epidemiology, Gene Polymorphism, Public Health and Health Services, Arthritis & Rheumatology, Clinical sciences
Abstract

ObjectivesOsteoarthritis (OA) is the most common form of arthritis with a clear genetic component. To identify novel loci associated with hip OA we performed a meta-analysis of genome-wide association studies (GWAS) on European subjects.MethodsWe performed a two-stage meta-analysis on more than 78,000 participants. In stage 1, we synthesised data from eight GWAS whereas data from 10 centres were used for 'in silico' or 'de novo' replication. Besides the main analysis, a stratified by sex analysis was performed to detect possible sex-specific signals. Meta-analysis was performed using inverse-variance fixed effects models. A random effects approach was also used.ResultsWe accumulated 11,277 cases of radiographic and symptomatic hip OA. We prioritised eight single nucleotide polymorphism (SNPs) for follow-up in the discovery stage (4349 OA cases); five from the combined analysis, two male specific and one female specific. One locus, at 20q13, represented by rs6094710 (minor allele frequency (MAF) 4%) near the NCOA3 (nuclear receptor coactivator 3) gene, reached genome-wide significance level with p=7.9×10(-9) and OR=1.28 (95% CI 1.18 to 1.39) in the combined analysis of discovery (p=5.6×10(-8)) and follow-up studies (p=7.3×10(-4)). We showed that this gene is expressed in articular cartilage and its expression was significantly reduced in OA-affected cartilage. Moreover, two loci remained suggestive associated; rs5009270 at 7q31 (MAF 30%, p=9.9×10(-7), OR=1.10) and rs3757837 at 7p13 (MAF 6%, p=2.2×10(-6), OR=1.27 in male specific analysis).ConclusionsNovel genetic loci for hip OA were found in this meta-analysis of GWAS.

Published
2014

11. Supplementary Table S2 from Overcoming Barriers to Tumor Genomic Profiling through Direct-to-Patient Outreach

Author

Doe-Tetteh, Seyram A., primary, Camp, Sabrina Y., primary, Reales, Dalicia, primary, Crowdis, Jett, primary, Noronha, Anne Marie, primary, Wolff, Bernadette, primary, Alano, Tina, primary, Galle, Jesse, primary, Selcuklu, S. Duygu, primary, Viale, Agnes, primary, Socci, Nicholas D., primary, Liu, Ying L., primary, Tew, William P., primary, Aghajanian, Carol, primary, Ladanyi, Marc, primary, He, Meng Xiao, primary, AlDubayan, Saud H., primary, Mazor, Roei David, primary, Shpilberg, Ofer, primary, Hershkovitz-Rokah, Oshrat, primary, Riancho, Jose A., primary, Hernandez, Jose L., primary, Gonzalez-Vela, M. Carmen, primary, Buthorn, Justin J., primary, Wilson, Manda, primary, Webber, Amy E., primary, Yabe, Mariko, primary, Petrova-Drus, Kseniya, primary, Rosenblum, Marc, primary, Durham, Benjamin H., primary, Abdel-Wahab, Omar, primary, Berger, Michael F., primary, Donoghue, Mark T.A., primary, Kung, Andrew L., primary, Glade Bender, Julia, primary, Shukla, Neerav N., primary, Funt, Samuel A., primary, Dogan, Ahmet, primary, Soslow, Robert A., primary, Al-Ahmadie, Hikmat, primary, Feldman, Darren R., primary, Van Allen, Eliezer M., primary, Diamond, Eli L., primary, and Solit, David B., primary

Published
2023
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12. Data from Overcoming Barriers to Tumor Genomic Profiling through Direct-to-Patient Outreach

Author

Doe-Tetteh, Seyram A., primary, Camp, Sabrina Y., primary, Reales, Dalicia, primary, Crowdis, Jett, primary, Noronha, Anne Marie, primary, Wolff, Bernadette, primary, Alano, Tina, primary, Galle, Jesse, primary, Selcuklu, S. Duygu, primary, Viale, Agnes, primary, Socci, Nicholas D., primary, Liu, Ying L., primary, Tew, William P., primary, Aghajanian, Carol, primary, Ladanyi, Marc, primary, He, Meng Xiao, primary, AlDubayan, Saud H., primary, Mazor, Roei David, primary, Shpilberg, Ofer, primary, Hershkovitz-Rokah, Oshrat, primary, Riancho, Jose A., primary, Hernandez, Jose L., primary, Gonzalez-Vela, M. Carmen, primary, Buthorn, Justin J., primary, Wilson, Manda, primary, Webber, Amy E., primary, Yabe, Mariko, primary, Petrova-Drus, Kseniya, primary, Rosenblum, Marc, primary, Durham, Benjamin H., primary, Abdel-Wahab, Omar, primary, Berger, Michael F., primary, Donoghue, Mark T.A., primary, Kung, Andrew L., primary, Glade Bender, Julia, primary, Shukla, Neerav N., primary, Funt, Samuel A., primary, Dogan, Ahmet, primary, Soslow, Robert A., primary, Al-Ahmadie, Hikmat, primary, Feldman, Darren R., primary, Van Allen, Eliezer M., primary, Diamond, Eli L., primary, and Solit, David B., primary

Published
2023
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13. Supplementary Figure S1 from Overcoming Barriers to Tumor Genomic Profiling through Direct-to-Patient Outreach

Author

Doe-Tetteh, Seyram A., primary, Camp, Sabrina Y., primary, Reales, Dalicia, primary, Crowdis, Jett, primary, Noronha, Anne Marie, primary, Wolff, Bernadette, primary, Alano, Tina, primary, Galle, Jesse, primary, Selcuklu, S. Duygu, primary, Viale, Agnes, primary, Socci, Nicholas D., primary, Liu, Ying L., primary, Tew, William P., primary, Aghajanian, Carol, primary, Ladanyi, Marc, primary, He, Meng Xiao, primary, AlDubayan, Saud H., primary, Mazor, Roei David, primary, Shpilberg, Ofer, primary, Hershkovitz-Rokah, Oshrat, primary, Riancho, Jose A., primary, Hernandez, Jose L., primary, Gonzalez-Vela, M. Carmen, primary, Buthorn, Justin J., primary, Wilson, Manda, primary, Webber, Amy E., primary, Yabe, Mariko, primary, Petrova-Drus, Kseniya, primary, Rosenblum, Marc, primary, Durham, Benjamin H., primary, Abdel-Wahab, Omar, primary, Berger, Michael F., primary, Donoghue, Mark T.A., primary, Kung, Andrew L., primary, Glade Bender, Julia, primary, Shukla, Neerav N., primary, Funt, Samuel A., primary, Dogan, Ahmet, primary, Soslow, Robert A., primary, Al-Ahmadie, Hikmat, primary, Feldman, Darren R., primary, Van Allen, Eliezer M., primary, Diamond, Eli L., primary, and Solit, David B., primary

Published
2023
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16. GWAS and meta-analysis identifies 49 genetic variants underlying critical Covid-19

Author

Pairo-Castineira, Erola, Rawlik, Konrad, Bretherick, Andrew D, Qi, Ting, Wu, Yang, Nassiri, Isar, McConkey, Glenn A., Zechner, Marie, Klaric, Lucija, Griffiths, Fiona, Oosthuyzen, Wilna, Kousathanas, Athanasios, Richmond , Anne, Millar, Jonathan, Russell, Clark D, Malinauskas, Tomas, Thwaites, Ryan, Morrice, Kirstie, Keating, Sean, Maslove, David M, Nichol, Alistair D, Semple, Malcolm Gracie, Knight, Julian, Shankar-Hari, Manu, Summers, Charlotte, Hinds , Charles, Horby, Peter, Ling, Lowell, McAuley, Danny F., Montgomery, Hugh, Openshaw, Peter J.M., Begg, Colin, Walsh, Timothy S., Tenesa, Albert, Flores, Carlos, Riancho, Jose A., Rojas-Martinez, Augusto, Lapunzina, Pablo, Yang, Jian, Ponting, Chris P, Wilson, James F, Vitart, Veronique, Abedalthagafi, Malak S, Luchessi, Andre, Parra, Esteban J, Cruz, Raquel, Carracedo, Angel, Fawkes, Angie, Murphy, Lee, Rowan, Kathy, Pereira, Alexandre C, Law, Andy, Fairfax, Benjamin P, Clohisey Hendry, Sara, and Baillie, J Kenneth

Subjects
Phenotype, Genetic Variation/genetics, Genotype, Genotyping Techniques, Whole Genome Sequencing, Monocytes/metabolism, Critical Illness, Genetic Predisposition to Disease/genetics, rab GTP-Binding Proteins/genetics, Humans, Transcriptome, COVID-19/genetics, Genome-Wide Association Study
Abstract

Critical illness in COVID-19 is an extreme and clinically homogeneous disease phenotype that we have previously shown 1 to be highly efficient for discovery of genetic associations 2. Despite the advanced stage of illness at presentation, we have shown that host genetics in patients who are critically ill with COVID-19 can identify immunomodulatory therapies with strong beneficial effects in this group 3. Here we analyse 24,202 cases of COVID-19 with critical illness comprising a combination of microarray genotype and whole-genome sequencing data from cases of critical illness in the international GenOMICC (11,440 cases) study, combined with other studies recruiting hospitalized patients with a strong focus on severe and critical disease: ISARIC4C (676 cases) and the SCOURGE consortium (5,934 cases). To put these results in the context of existing work, we conduct a meta-analysis of the new GenOMICC genome-wide association study (GWAS) results with previously published data. We find 49 genome-wide significant associations, of which 16 have not been reported previously. To investigate the therapeutic implications of these findings, we infer the structural consequences of protein-coding variants, and combine our GWAS results with gene expression data using a monocyte transcriptome-wide association study (TWAS) model, as well as gene and protein expression using Mendelian randomization. We identify potentially druggable targets in multiple systems, including inflammatory signalling (JAK1), monocyte-macrophage activation and endothelial permeability (PDE4A), immunometabolism (SLC2A5 and AK5), and host factors required for viral entry and replication (TMPRSS2 and RAB2A).

Published
2023

17. Overcoming Barriers to Tumor Genomic Profiling through Direct-to-Patient Outreach

Author

Doe-Tetteh, Seyram A., primary, Camp, Sabrina Y., additional, Reales, Dalicia, additional, Crowdis, Jett, additional, Noronha, Anne Marie, additional, Wolff, Bernadette, additional, Alano, Tina, additional, Galle, Jesse, additional, Selcuklu, S. Duygu, additional, Viale, Agnes, additional, Socci, Nicholas D., additional, Liu, Ying L., additional, Tew, William P., additional, Aghajanian, Carol, additional, Ladanyi, Marc, additional, He, Meng Xiao, additional, AlDubayan, Saud H., additional, Mazor, Roei David, additional, Shpilberg, Ofer, additional, Hershkovitz-Rokah, Oshrat, additional, Riancho, Jose A., additional, Hernandez, Jose L., additional, Gonzalez-Vela, M. Carmen, additional, Buthorn, Justin J., additional, Wilson, Manda, additional, Webber, Amy E., additional, Yabe, Mariko, additional, Petrova-Drus, Kseniya, additional, Rosenblum, Marc, additional, Durham, Benjamin H., additional, Abdel-Wahab, Omar, additional, Berger, Michael F., additional, Donoghue, Mark T.A., additional, Kung, Andrew L., additional, Glade Bender, Julia, additional, Shukla, Neerav N., additional, Funt, Samuel A., additional, Dogan, Ahmet, additional, Soslow, Robert A., additional, Al-Ahmadie, Hikmat, additional, Feldman, Darren R., additional, Van Allen, Eliezer M., additional, Diamond, Eli L., additional, and Solit, David B., additional

Published
2023
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19. High Bone Mass Disorders : New Insights From Connecting the Clinic and the Bench

Author

Bergen, Dylan J. M., Maurizi, Antonio, Formosa, Melissa M., McDonald, Georgina L. K., El-Gazzar, Ahmed, Hassan, Neelam, Brandi, Maria-Luisa, Riancho, Jose A., Rivadeneira, Fernando, Ntzani, Evangelia, Duncan, Emma L., Gregson, Celia L., Kiel, Douglas P., Zillikens, M. Carola, Sangiorgi, Luca, Hogler, Wolfgang, Duran, Ivan, Mäkitie, Outi, Van Hul, Wim, Hendrickx, Gretl, HUS Children and Adolescents, Clinicum, Lastentautien yksikkö, Children's Hospital, University of Helsinki, Research Programs Unit, Medicum, and CAMM - Research Program for Clinical and Molecular Metabolism

Subjects
Paracrine pathways, Diseases and disorders of, Genetic animal models, Related to bone, 3121 General medicine, internal medicine and other clinical medicine, Cell, Therapeutics, Tissue signaling, Genetic research, Anabolics, Animal models
Abstract

Monogenic high bone mass (HBM) disorders are characterized by an increased amount of bone in general, or at specific sites in the skeleton. Here, we describe 59 HBM disorders with 50 known disease-causing genes from the literature, and we provide an overview of the signaling pathways and mechanisms involved in the pathogenesis of these disorders. Based on this, we classify the known HBM genes into HBM (sub)groups according to uniform Gene Ontology (GO) terminology. This classification system may aid in hypothesis generation, for both wet lab experimental design and clinical genetic screening strategies. We discuss how functional genomics can shape discovery of novel HBM genes and/or mechanisms in the future, through implementation of omics assessments in existing and future model systems. Finally, we address strategies to improve gene identification in unsolved HBM cases and highlight the importance for cross-laboratory collaborations encompassing multidisciplinary efforts to transfer knowledge generated at the bench to the clinic. (c) 2022 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).

Published
2023

24. Genome-wide association study for radiographic vertebral fractures: A potential role for the 16q24 BMD locus

Author

Oei, Ling, Estrada, Karol, Duncan, Emma L., Christiansen, Claus, Liu, Ching-Ti, Langdahl, Bente L., Obermayer-Pietsch, Barbara, Riancho, José A., Prince, Richard L., van Schoor, Natasja M., McCloskey, Eugene, Hsu, Yi-Hsiang, Evangelou, Evangelos, Ntzani, Evangelia, Evans, David M., Alonso, Nerea, Husted, Lise B., Valero, Carmen, Hernandez, Jose L., Lewis, Joshua R., Kaptoge, Stephen K., Zhu, Kun, Cupples, L. Adrienne, Medina-Gómez, Carolina, Vandenput, Liesbeth, Kim, Ghi Su, Lee, Seung Hun, Castaño-Betancourt, Martha C., Oei, Edwin H.G., Martinez, Josefina, Daroszewska, Anna, van der Klift, Marjolein, Mellström, Dan, Herrera, Lizbeth, Karlsson, Magnus K., Hofman, Albert, Ljunggren, Östen, Pols, Huibert A.P., Stolk, Lisette, van Meurs, Joyce B.J., Ioannidis, John P.A., Zillikens, M. Carola, Lips, Paul, Karasik, David, Uitterlinden, André G., Styrkarsdottir, Unnur, Brown, Matthew A., Koh, Jung-Min, Richards, J. Brent, Reeve, Jonathan, Ohlsson, Claes, Ralston, Stuart H., Kiel, Douglas P., and Rivadeneira, Fernando

Published
2014
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26. The European registry for rare bone and mineral conditions (EuRR-Bone): results of a survey on osteogenesis imperfecta and fibrous dysplasia McCune-Albright syndrome

Author

Zurita, Ana Luisa Priego, primary, Danila, Oana O., additional, Allgrove, Jeremy, additional, Brandi, Maria Luisa, additional, Bryce, Jillian, additional, Chapurlat, Roland, additional, Dzivite-Krisane, Iveta, additional, Grasemann, Corinna, additional, Högler, Wolfgang, additional, Javaid, M. Kassim, additional, McDevitt, Helen, additional, Montero-Lopez, Rodrigo, additional, Mortier, Geert, additional, Oheim, Ralf, additional, Riancho, Jose A., additional, de Sanctis, Luisa, additional, Verrijn Stuart, Annemarie A., additional, Tessaris, Daniele, additional, Ahmed, S. Faisal, additional, and Appelman-Dijkstra, Natasha, additional

Published
2022
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34. Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

Author

Zheng, Hou-Feng, Forgetta, Vincenzo, Hsu, Yi-Hsiang, Estrada, Karol, Rosello-Diez, Alberto, Leo, Paul J., Dahia, Chitra L., Park-Min, Kyung Hyun, Tobias, Jonathan H., Kooperberg, Charles, Kleinman, Aaron, Styrkarsdottir, Unnur, Liu, Ching-Ti, Uggla, Charlotta, Evans, Daniel S., Nielson, Carrie M., Walter, Klaudia, Pettersson-Kymmer, Ulrika, McCarthy, Shane, Eriksson, Joel, Kwan, Tony, Jhamai, Mila, Trajanoska, Katerina, Memari, Yasin, Min, Josine, Huang, Jie, Danecek, Petr, Wilmot, Beth, Li, Rui, Chou, Wen-Chi, Mokry, Lauren E., Moayyeri, Alireza, Claussnitzer, Melina, Cheng, Chia-Ho, Cheung, Warren, Medina-Gómez, Carolina, Ge, Bing, Chen, Shu-Huang, Choi, Kwangbom, Oei, Ling, Fraser, James, Kraaij, Robert, Hibbs, Matthew A., Gregson, Celia L., Paquette, Denis, Hofman, Albert, Wibom, Carl, Tranah, Gregory J., Marshall, Mhairi, Gardiner, Brooke B., Cremin, Katie, Auer, Paul, Hsu, Li, Ring, Sue, Tung, Joyce Y., Thorleifsson, Gudmar, Enneman, Anke W., van Schoor, Natasja M., de Groot, Lisette C. P. G. M., van der Velde, Nathalie, Melin, Beatrice, Kemp, John P., Christiansen, Claus, Sayers, Adrian, Zhou, Yanhua, Calderari, Sophie, van Rooij, Jeroen, Carlson, Chris, Peters, Ulrike, Berlivet, Soizik, Dostie, Josée, Uitterlinden, Andre G., Williams, Stephen R., Farber, Charles, Grinberg, Daniel, LaCroix, Andrea Z., Haessler, Jeff, Chasman, Daniel I., Giulianini, Franco, Rose, Lynda M., Ridker, Paul M., Eisman, John A., Nguyen, Tuan V., Center, Jacqueline R., Nogues, Xavier, Garcia-Giralt, Natalia, Launer, Lenore L., Gudnason, Vilmunder, Mellström, Dan, Vandenput, Liesbeth, Amin, Najaf, van Duijn, Cornelia M., Karlsson, Magnus K., Ljunggren, Östen, Svensson, Olle, Hallmans, Göran, Rousseau, François, Giroux, Sylvie, Bussière, Johanne, Arp, Pascal P., Koromani, Fjorda, Prince, Richard L., Lewis, Joshua R., Langdahl, Bente L., Hermann, Pernille A., Jensen, Jens-Erik B., Kaptoge, Stephen, Khaw, Kay-Tee, Reeve, Jonathan, Formosa, Melissa M., Xuereb-Anastasi, Angela, Åkesson, Kristina, McGuigan, Fiona E., Garg, Gaurav, Olmos, Jose M., Zarrabeitia, Maria T., Riancho, Jose A., Ralston, Stuart H., Alonso, Nerea, Jiang, Xi, Goltzman, David, Pastinen, Tomi, Grundberg, Elin, Gauguier, Dominique, Orwoll, Eric S., Karasik, David, Davey-Smith, George, Smith, Albert V., Siggeirsdottir, Kristin, Harris, Tamara B., Zillikens, Carola M., van Meurs, Joyce B. J., Thorsteinsdottir, Unnur, Maurano, Matthew T., Timpson, Nicholas J., Soranzo, Nicole, Durbin, Richard, Wilson, Scott G., Ntzani, Evangelia E., Brown, Matthew A., Stefansson, Kari, Hinds, David A., Spector, Tim, Cupples, Adrienne L., Ohlsson, Claes, Greenwood, Celia M. T., Jackson, Rebecca D., Rowe, David W., Loomis, Cynthia A., Evans, David M., Ackert-Bicknell, Cheryl L., Joyner, Alexandra L., Duncan, Emma L., Kiel, Douglas P., Rivadeneira, Fernando, and Richards, Brent J.

Published
2015
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36. Assessment of Osteoarthritis Candidate Genes in a Meta-Analysis of Nine Genome-Wide Association Studies

Author

Rodriguez-Fontenla, Cristina, Calaza, Manuel, Evangelou, Evangelos, Valdes, Ana M., Arden, Nigel, Blanco, Francisco J., Carr, Andrew, Chapman, Kay, Deloukas, Panos, Doherty, Michael, Esko, Tõnu, Garcés Aletá, Carlos M., Gomez-Reino Carnota, Juan J., Helgadottir, Hafdis, Hofman, Albert, Jonsdottir, Ingileif, Kerkhof, Hanneke J. M., Kloppenburg, Margreet, McCaskie, Andrew, Ntzani, Evangelia E., Ollier, William E. R., Oreiro, Natividad, Panoutsopoulou, Kalliope, Ralston, Stuart H., Ramos, Yolande F., Riancho, Jose A., Rivadeneira, Fernando, Slagboom, Eline P., Styrkarsdottir, Unnur, Thorsteinsdottir, Unnur, Thorleifsson, Gudmar, Tsezou, Aspasia, Uitterlinden, André G., Wallis, Gillian A., Wilkinson, Mark J., Zhai, Guangju, Zhu, Yanyan, Felson, David T., Ioannidis, John P. A., Loughlin, John, Metspalu, Andres, Meulenbelt, Ingrid, Stefansson, Kari, van Meurs, Joyce B., Zeggini, Eleftheria, Spector, Timothy D., and Gonzalez, Antonio

Published
2014
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38. A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: data on 15 Iberian and Latin American populations

Author

Gusmão, Leonor, Sánchez-Diz, Paula, Alves, Cíntia, Gomes, Iva, Zarrabeitia, María Teresa, Abovich, Mariel, Atmetlla, Ivannia, Bobillo, Cecilia, Bravo, Luisa, Builes, Juan, Cainé, Laura, Calvo, Raquel, Carvalho, Elizeu, Carvalho, Mónica, Cicarelli, Regina, Catelli, Laura, Corach, Daniel, Espinoza, Marta, García, Óscar, Malaghini, Marcelo, Martins, Joyce, Pinheiro, Fátima, João Porto, Maria, Raimondi, Eduardo, Riancho, Jose Antonio, Rodríguez, Amelia, Rodríguez, Anayanci, Rodríguez Cardozo, Belén, Schneider, Vicente, Silva, Sandra, Tavares, Celso, Toscanini, Ulises, Vullo, Carlos, Whittle, Martin, Yurrebaso, Iñaki, Carracedo, Ángel, and Amorim, António

Published
2009
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39. Osteogenic capacity of mesenchymal stem cells from patients with osteoporotic hip fractures in vivo.

Author

López-Delgado, Laura, del Real, Alvaro, Sañudo, Carolina, Garcia-Ibarbia, Carmen, Laguna, Esther, Menendez, Guillermo, Garcia-Montesinos, Belen, Santurtun, Ana, Merino, Jesus, Pérez-Núñez, María I, and Riancho, Jose A.

Subjects
MESENCHYMAL stem cells, HIP fractures, BONE fractures, HUMAN stem cells, ALKALINE phosphatase, BONE regeneration
Abstract

Human mesenchymal stem cells (MSCs) have the ability to differentiate into bone-forming osteoblasts. The aim of this study was to elucidate if MSCs from patients with OP show a senescent phenotype and explore their bone-forming ability in vivo. MSCs from patients with OP and controls with osteoarthritis (OA) were implanted into the subcutaneous tissue of immunodeficient mice for histological analysis and expression of human genes by RT-PCR. The expression of senescence-associated phenotype (SASP) genes, as well as p16, p21, and galactosidase, was studied in cultures of MSCs. In vivo bone formation was evaluated in 103 implants (47 OP, 56 OA). New bone was observed in 45% of the implants with OP cells and 46% of those with OA cells (p = 0.99). The expression of several bone-related genes (collagen, osteocalcin, alkaline phosphatase, sialoprotein) was also similar in both groups. There were no differences between groups in SASP gene expression, p16, and p21 expression, or in senescence-associated galactosidase activity. Senescence markers and the osteogenic capacity in vivo of MSCs from patients with OP are not inferior to that of cells from controls of similar age with OA. This supports the interest of future studies to evaluate the potential use of autologous MSCs from OP patients in bone regeneration procedures. [ABSTRACT FROM AUTHOR]

Published
2022
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40. Osteogenic capacity of mesenchymal stem cells from patients with osteoporotic hip fractures in vivo

Author

López-Delgado, Laura, primary, del Real, Alvaro, additional, Sañudo, Carolina, additional, Garcia-Ibarbia, Carmen, additional, Laguna, Esther, additional, Menendez, Guillermo, additional, Garcia-Montesinos, Belen, additional, Santurtun, Ana, additional, Merino, Jesus, additional, Pérez-Núñez, María I, additional, and Riancho, Jose A., additional

Published
2021
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45. Long Noncoding RNAs as Bone Marrow Stem Cell Regulators in Osteoporosis

Author

Del Real, Alvaro, primary, López-Delgado, Laura, additional, Sañudo, Carolina, additional, García-Ibarbia, Carmen, additional, Laguna, Esther, additional, Perez-Campo, Flor M., additional, Menéndez, Guillermo, additional, Alfonso, Ana, additional, Fakkas, Michel, additional, García-Montesinos, Belén, additional, Valero, Carmen, additional, Pérez-Núñez, Maria Isabel, additional, and Riancho, Jose A., additional

Published
2020
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47. Bone health: a reflection of the social mosaic

Author

Miszkiewicz, Justyna J., editor, Brennan-Olsen, Sharon L., editor, Riancho, Jose A., editor, Miszkiewicz, Justyna J., editor, Brennan-Olsen, Sharon L., editor, and Riancho, Jose A., editor

Published
2019

48. The Social Context of Bone Health: Conclusions and Future Directions

Author

Miszkiewicz, J., Brennan-Olsen, S., Riancho, J., Brennan-Olsen, Sharon L., Riancho, Jose A., Miszkiewicz, Justyna, Miszkiewicz, J., Brennan-Olsen, S., Riancho, J., Brennan-Olsen, Sharon L., Riancho, Jose A., and Miszkiewicz, Justyna

Abstract

Just as observed in contemporary society, social status in the Middle Ages was a key determinant of nutrition, health, disease, and general lifestyle. Indeed, there are stark similarities between these two distinct time periods. Ease of access to a nutrient-rich diet and a privileged quality of life can be observed in individuals of upper socio-economic status (SES), whether they be a medieval royal or, for exam-ple, a chief executive officer (CEO) of a major corporation in current times. In contrast, individuals with less access to wealth, and thus fewer options for achieving the highest possible quality of life, are more likely to experience poor health, regard-less of when they lived. Data ascertained from medieval human skeletal samples deriving from a range of European archaeological sites indicate that, just as observed in contemporary society, a social gradient in bone quality is observed.

Published
2019

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